Variant report

Variant	nsv541062
Chromosome Location	chr11:63998625-64015834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64015633-64015635	K562	blood:	n/a	n/a
2	ARID3A	chr11:64009168-64009170	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:64013328-64013472	K562	blood:	n/a	n/a
4	ATF1	chr11:64008241-64008627	K562	blood:	n/a	n/a
5	ATF2	chr11:64013121-64013695	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:64011277-64011612	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:64008125-64008735	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:64007292-64008913	GM12878	blood:	n/a	n/a
9	ATF2	chr11:64014366-64014903	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr11:64007264-64008587	GM12878	blood:	n/a	n/a
11	ATF2	chr11:64008037-64008474	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr11:63999714-63999929	K562	blood:	n/a	n/a
13	ATF3	chr11:64013093-64013611	A549	lung:	n/a	n/a
14	ATF3	chr11:64013274-64013500	K562	blood:	n/a	n/a
15	ATF3	chr11:64013134-64013699	A549	lung:	n/a	n/a
16	ATF3	chr11:64013123-64013563	K562	blood:	n/a	n/a
17	BACH1	chr11:64009738-64010048	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:64007975-64008382	K562	blood:	n/a	n/a
19	BACH1	chr11:64009803-64009864	K562	blood:	n/a	n/a
20	BACH1	chr11:64008124-64009195	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr11:64013411-64013540	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr11:64007385-64007785	GM12878	blood:	n/a	n/a
23	BATF	chr11:64013267-64013506	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:64007498-64007847	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:64007386-64008102	GM12878	blood:	n/a	n/a
26	BCL3	chr11:64014369-64015117	A549	lung:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014422-64014431 chr11:64014369-64014382 chr11:64014861-64014869
27	BCL3	chr11:64012312-64013922	A549	lung:	n/a	chr11:64013569-64013582 chr11:64013147-64013155 chr11:64013495-64013508
28	BCL3	chr11:64007508-64010363	A549	lung:	n/a	chr11:64008413-64008422 chr11:64008867-64008880 chr11:64009302-64009311 chr11:64008425-64008438 chr11:64008875-64008884 chr11:64009641-64009654 chr11:64008863-64008876 chr11:64008351-64008360 chr11:64008974-64008983 chr11:64008868-64008877 chr11:64009165-64009174 chr11:64009330-64009343
29	BCL3	chr11:64011504-64011786	K562	blood:	n/a	n/a
30	BCL3	chr11:64012561-64013718	A549	lung:	n/a	chr11:64013569-64013582 chr11:64013147-64013155 chr11:64013495-64013508
31	BCL3	chr11:64001575-64001910	A549	lung:	n/a	chr11:64001891-64001904 chr11:64001884-64001897 chr11:64001889-64001898
32	BCL3	chr11:64011507-64011991	A549	lung:	n/a	chr11:64011791-64011799
33	BCL3	chr11:64007492-64008784	GM12878	blood:	n/a	chr11:64008413-64008422 chr11:64008425-64008438 chr11:64008351-64008360
34	BCL3	chr11:63997495-63998663	A549	lung:	n/a	n/a
35	BCL3	chr11:64007865-64012097	A549	lung:	n/a	chr11:64008413-64008422 chr11:64008867-64008880 chr11:64009302-64009311 chr11:64008425-64008438 chr11:64008875-64008884 chr11:64009641-64009654 chr11:64011791-64011799 chr11:64008863-64008876 chr11:64008351-64008360 chr11:64008974-64008983 chr11:64008868-64008877 chr11:64009165-64009174 chr11:64009330-64009343
36	BCL3	chr11:64010566-64011505	A549	lung:	n/a	n/a
37	BCLAF1	chr11:64014766-64015155	GM12878	blood:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014861-64014869
38	BCLAF1	chr11:64012878-64013417	GM12878	blood:	n/a	chr11:64013147-64013155
39	BCLAF1	chr11:64008937-64009603	K562	blood:	n/a	chr11:64009302-64009311 chr11:64008974-64008983 chr11:64009165-64009174 chr11:64009330-64009343
40	BCLAF1	chr11:64007488-64008776	GM12878	blood:	n/a	chr11:64008413-64008422 chr11:64008425-64008438 chr11:64008351-64008360
41	BCLAF1	chr11:64007666-64008600	K562	blood:	n/a	chr11:64008413-64008422 chr11:64008425-64008438 chr11:64008351-64008360
42	BCLAF1	chr11:64007442-64008883	GM12878	blood:	n/a	chr11:64008413-64008422 chr11:64008867-64008880 chr11:64008425-64008438 chr11:64008863-64008876 chr11:64008351-64008360 chr11:64008868-64008877
43	BCLAF1	chr11:64008915-64009442	GM12878	blood:	n/a	chr11:64009302-64009311 chr11:64008974-64008983 chr11:64009165-64009174 chr11:64009330-64009343
44	BCLAF1	chr11:64014504-64015253	K562	blood:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014861-64014869
45	BHLHE40	chr11:64014633-64015198	K562	blood:	n/a	chr11:64015031-64015047
46	BHLHE40	chr11:64014541-64015188	GM12878	blood:	n/a	chr11:64015031-64015047
47	BHLHE40	chr11:64007493-64009521	GM12878	blood:	n/a	chr11:64009405-64009421 chr11:64008555-64008571 chr11:64009413-64009429 chr11:64009402-64009418
48	BHLHE40	chr11:64002377-64002511	K562	blood:	n/a	n/a
49	BHLHE40	chr11:64014012-64014186	GM12878	blood:	n/a	n/a
50	BHLHE40	chr11:64013245-64013632	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64001994-64002044	K562	blood:	n/a
2	chr11:64014518-64014568	AG10803	skin:	n/a
3	chr11:64002298-64002348	BE2_C	brain:	n/a
4	chr11:64009083-64009133	HAEpiC	amniotic membrane:	n/a
5	chr11:64014598-64014648	HCM	heart:	n/a
6	chr11:64008424-64008474	U87	brain:	n/a
7	chr11:64008328-64008378	NHDF-neo	bronchial:	n/a
8	chr11:64001994-64002044	K562	blood:	n/a
9	chr11:64014518-64014568	AG10803	skin:	n/a
10	chr11:64002298-64002348	BE2_C	brain:	n/a
11	chr11:64009083-64009133	HAEpiC	amniotic membrane:	n/a
12	chr11:64014598-64014648	HCM	heart:	n/a
13	chr11:64008424-64008474	U87	brain:	n/a
14	chr11:64008328-64008378	NHDF-neo	bronchial:	n/a
15	chr11:64008349-64008399	NHDF-neo	bronchial:	n/a
16	chr11:64014871-64014921	HCF	heart:	n/a
17	chr11:64005428-64005478	Jurkat	blood:	n/a
18	chr11:64007569-64007619	PrEC	prostate:	n/a
19	chr11:64015574-64015624	LNCaP	prostate:	n/a
20	chr11:64015574-64015624	HCM	heart:	n/a
21	chr11:64009486-64009536	GM12891	blood:	n/a
22	chr11:64002754-64002804	Jurkat	blood:	n/a
23	chr11:64008424-64008474	HAEpiC	amniotic membrane:	n/a
24	chr11:64009406-64009456	PFSK-1	brain:	n/a
25	chr11:64001094-64001144	HIPEpiC	eye:	n/a
26	chr11:64014554-64014604	HRCEpiC	kidney:	n/a
27	chr11:64002635-64002685	PrEC	prostate:	n/a
28	chr11:64009083-64009133	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:64009486-64009536	AG04449	skin:	fetal
30	chr11:64002754-64002804	AG09319	gingival:	n/a
31	chr11:64007569-64007619	AG10803	skin:	n/a
32	chr11:64014598-64014648	AG09319	gingival:	n/a
33	chr11:64008691-64008741	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:64009486-64009536	PrEC	prostate:	n/a
35	chr11:64008424-64008474	H1-hESC	embryonic stem cell:	embryo
36	chr11:64009540-64009590	T-47D	breast:	n/a
37	chr11:64007569-64007619	HepG2	liver:	n/a
38	chr11:64015574-64015624	IMR90	lung:	fetal
39	chr11:64007813-64007863	HNPCEpiC	eye:	n/a
40	chr11:64001996-64002046	K562	blood:	n/a
41	chr11:64008407-64008457	U87	brain:	n/a
42	chr11:64007569-64007619	RPTEC	kidney:	n/a
43	chr11:64002295-64002345	CMK	blood:	n/a
44	chr11:64009423-64009473	SK-N-SH_RA	brain:	n/a
45	chr11:64009419-64009469	HRCEpiC	kidney:	n/a
46	chr11:64014871-64014921	AoSMC	blood vessel:	n/a
47	chr11:64009423-64009473	SAEC	small airway:	n/a
48	chr11:64008349-64008399	HCM	heart:	n/a
49	chr11:64008466-64008516	NB4	blood:	n/a
50	chr11:64014554-64014604	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
2	chr11:63997990..64000103-chr11:64070945..64073334,3	MCF-7	breast:
3	chr11:64008060..64008812-chr12:56552076..56552597,2	Hela-S3	cervix:
4	chr11:64012378..64014719-chr11:64084381..64087113,3	K562	blood:
5	chr11:64008386..64010951-chr11:64125361..64127756,4	MCF-7	breast:
6	chr11:63951070..63956024-chr11:64006485..64011246,10	MCF-7	breast:
7	chr11:64008214..64010501-chr11:64051864..64054015,3	MCF-7	breast:
8	chr11:64010701..64012407-chr11:64113744..64115719,2	K562	blood:
9	chr11:63932405..63934131-chr11:64004230..64006451,2	MCF-7	breast:
10	chr11:63931721..63935529-chr11:64007238..64009855,5	MCF-7	breast:
11	chr11:64008123..64009652-chr11:64126400..64128645,2	MCF-7	breast:
12	chr11:64001331..64003379-chr11:64062439..64064683,2	MCF-7	breast:
13	chr11:64006660..64010446-chr11:64082567..64085290,3	K562	blood:
14	chr11:64013049..64014994-chr11:64052537..64054255,3	MCF-7	breast:
15	chr11:63998837..64000808-chr11:64079142..64081596,2	MCF-7	breast:
16	chr11:64009193..64009933-chrX:100645881..100646404,2	Hela-S3	cervix:
17	chr11:64011433..64012934-chr9:86594383..86596466,2	MCF-7	breast:
18	chr11:63931932..63936018-chr11:63996543..64001155,4	MCF-7	breast:
19	chr11:64008487..64009029-chr17:45972719..45973468,2	Hela-S3	cervix:
20	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
21	chr11:63784023..63786647-chr11:64006820..64008419,2	K562	blood:
22	chr11:63951708..63954659-chr11:63996505..63999341,3	MCF-7	breast:
23	chr11:64008248..64009126-chr3:48481295..48481875,2	NB4	blood:
24	chr11:63752092..63755018-chr11:64008321..64010556,3	K562	blood:
25	chr11:63930168..63934783-chr11:64013330..64015860,5	MCF-7	breast:
26	chr11:64012978..64013548-chr19:39926002..39926585,2	Hela-S3	cervix:
27	chr11:64001901..64002697-chr15:65596667..65597412,2	HCT-116	colon:
28	chr11:64008635..64009566-chr11:68038885..68039558,2	Hela-S3	cervix:
29	chr11:64001124..64003237-chr5:180669340..180672210,2	MCF-7	breast:
30	chr11:64007566..64010545-chr11:64085469..64088420,4	MCF-7	breast:
31	chr11:64014386..64015077-chr16:31191101..31191993,2	Hela-S3	cervix:
32	chr11:64008114..64008755-chr11:128391696..128392371,2	Hela-S3	cervix:
33	chr11:64001770..64003427-chr11:64071826..64073538,2	MCF-7	breast:
34	chr11:64004816..64010809-chr11:64048058..64057254,13	MCF-7	breast:
35	chr11:63950870..63952881-chr11:64001401..64003560,2	MCF-7	breast:
36	chr11:64006100..64009452-chr11:64096947..64099274,3	K562	blood:
37	chr11:64000315..64002426-chr11:64053899..64055582,2	MCF-7	breast:
38	chr11:64011811..64014800-chr11:64054845..64057591,2	MCF-7	breast:
39	chr11:64005251..64012775-chr11:64065543..64076594,19	MCF-7	breast:
40	chr11:62607544..62610637-chr11:64006903..64010081,3	MCF-7	breast:
41	chr11:64007679..64009892-chr13:92001604..92004305,2	K562	blood:
42	chr11:64006376..64009542-chr11:64085352..64088265,3	K562	blood:
43	chr11:64000008..64002901-chr11:64125113..64127418,2	MCF-7	breast:
44	chr11:64013671..64014437-chrX:47092332..47093146,2	Hela-S3	cervix:
45	chr11:64008452..64010897-chr17:56404287..56407137,2	K562	blood:
46	chr11:63932116..63935124-chr11:64007812..64010252,3	MCF-7	breast:
47	chr11:64007608..64008385-chr16:28834777..28835600,2	Hela-S3	cervix:
48	chr11:64007434..64010097-chr6:26123452..26125154,2	K562	blood:
49	chr11:64012813..64019826-chr11:64070484..64074683,9	MCF-7	breast:
50	chr11:63933271..63935059-chr11:64002653..64006652,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP2-1	chr11:64015425-64015689	ENSG00000256940.1
2	lnc-DNAJC4-1	chr11:64000964-64001452	NONHSAT021966
3	lnc-PPP1R14B-1	chr11:64015522-64015644	ENSG00000257086.1
4	lnc-PPP1R14B-1	chr11:64014411-64014831	ENSG00000257086.1
5	lnc-FKBP2-1	chr11:64014526-64014731	ENSG00000256940.1
6	lnc-FKBP2-1	chr11:64015425-64015649	ENSG00000256940.1
7	lnc-TRPT1-1	chr11:64001666-64001824	ENSG00000256116.1
8	lnc-TRPT1-1	chr11:63998695-63998762	ENSG00000256116.1
9	lnc-DNAJC4-3	chr11:64004993-64005127	NONHSAT021969
10	lnc-DNAJC4-3	chr11:64004599-64004694	NONHSAT021969
11	lnc-DNAJC4-1	chr11:64001545-64001758	NONHSAT021966
12	lnc-DNAJC4-3	chr11:64005828-64006259	NONHSAT021969
13	lnc-FKBP2-1	chr11:64013436-64013561	ENSG00000256940.1

Variant related genes	Relation type
FKBP2	TF binding region
PPP1R14B	TF binding region
PLCB3	TF binding region
DNAJC4	TF binding region
ENSG00000256116	TF binding region
TRPT1	TF binding region
ENSG00000256940	TF binding region
VEGFB	TF binding region
FKBP2	CpG island
PPP1R14B	CpG island
PLCB3	CpG island
DNAJC4	CpG island
ENSG00000256116	CpG island
TRPT1	CpG island
ENSG00000256940	CpG island
VEGFB	CpG island
ENSG00000185475	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000257529	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000167770	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000164054	chromatin interactions
ENSG00000121060	chromatin interactions
ENSG00000005379	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000102226	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000265238	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000149782	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000269038	chromatin interactions
ENSG00000241343	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000126768	chromatin interactions
ENSG00000138166	chromatin interactions
ENSG00000215769	chromatin interactions
ENSG00000127564	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000145979	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000074800	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000182450	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000013588	chromatin interactions
ENSG00000237436	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000157637	chromatin interactions
ENSG00000267858	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000178966	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000165119	chromatin interactions
ENSG00000265148	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000264920	chromatin interactions
ENSG00000136877	chromatin interactions
ENSG00000207024	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000102103	chromatin interactions
ENSG00000236269	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000236935	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000164051	chromatin interactions
ENSG00000232112	chromatin interactions
ENSG00000134954	chromatin interactions
ENSG00000257069	chromatin interactions
ENSG00000162073	chromatin interactions
ENSG00000002330	chromatin interactions

Extended variants
information (count: 836 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77829366	chr11:63998628-63998629	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs143447723	chr11:63998632-63998633	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs79158795	chr11:63998635-63998636	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs116511400	chr11:63998662-63998663	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs191777041	chr11:63998665-63998666	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs556240116	chr11:63998691-63998692	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs564855741	chr11:63998693-63998694	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs576002337	chr11:63998738-63998739	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
9	rs3741405	chr11:63998766-63998767	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs35004947	chr11:63998814-63998815	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs398038220	chr11:63998832-63998833	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs188076188	chr11:63998847-63998848	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs191717044	chr11:63998850-63998851	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs182674183	chr11:63998882-63998883	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs549198460	chr11:63998907-63998908	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs36097334	chr11:63998946-63998947	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs569467586	chr11:63998971-63998972	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs538420309	chr11:63998974-63998975	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs535475664	chr11:63999101-63999102	Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs551976608	chr11:63999103-63999104	Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs571985818	chr11:63999116-63999117	Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs534456120	chr11:63999141-63999142	Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs553735327	chr11:63999145-63999146	Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs186636865	chr11:63999165-63999166	Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs555621932	chr11:63999219-63999220	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs3741404	chr11:63999240-63999241	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs555961909	chr11:63999286-63999287	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs372468022	chr11:63999323-63999324	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs117587977	chr11:63999331-63999332	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs191385159	chr11:63999360-63999361	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs369229457	chr11:63999361-63999362	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs201667418	chr11:63999374-63999375	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs544177015	chr11:63999402-63999403	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs371462463	chr11:63999404-63999405	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs375848421	chr11:63999406-63999407	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs369114270	chr11:63999411-63999412	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs146732753	chr11:63999447-63999448	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs373873144	chr11:63999456-63999457	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs200377402	chr11:63999457-63999458	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs3741403	chr11:63999529-63999530	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs529254955	chr11:63999534-63999535	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs185616590	chr11:63999550-63999551	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs562994144	chr11:63999555-63999556	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs34630188	chr11:63999581-63999582	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs531806372	chr11:63999597-63999598	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs577922908	chr11:63999619-63999620	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs571826604	chr11:63999628-63999629	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs528037876	chr11:63999650-63999651	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs190438743	chr11:63999674-63999675	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs377547876	chr11:63999710-63999711	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2612 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63994600-64001200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63996800-63998800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr11:63997200-63998800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr11:63997200-63998800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr11:63997200-63998800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:63997200-63998800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:63997200-63998800	Flanking Active TSS	Fetal Thymus	thymus
8	chr11:63997200-63999400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:63997400-63998800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:63997400-63998800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:63997400-63998800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:63997400-63998800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:63997400-63998800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:63997400-63998800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr11:63997400-63998800	Active TSS	Brain Germinal Matrix	brain
16	chr11:63997400-63998800	Active TSS	Fetal Kidney	kidney
17	chr11:63997400-63998800	Active TSS	Left Ventricle	heart
18	chr11:63997400-63998800	Active TSS	Ovary	ovary
19	chr11:63997400-63998800	Active TSS	Psoas Muscle	Psoas
20	chr11:63997400-63998800	Flanking Active TSS	HMEC	breast
21	chr11:63997400-63999200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:63997400-63999200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:63997600-63998800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:63997600-63998800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:63997600-63998800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:63997600-63998800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:63997600-63998800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:63997600-63998800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:63997600-63998800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:63997600-63998800	Active TSS	Fetal Heart	heart
31	chr11:63997600-63998800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr11:63997600-63998800	Active TSS	Right Atrium	heart
33	chr11:63997600-63998800	Active TSS	Thymus	Thymus
34	chr11:63997600-63999000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:63997600-63999000	Active TSS	Colonic Mucosa	Colon
36	chr11:63997600-63999400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63997600-63999400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr11:63997800-63999400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:63998000-63998800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:63998200-63998800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:63998200-63998800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:63998200-63998800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:63998200-63998800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr11:63998200-63998800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:63998200-63998800	Flanking Active TSS	Fetal Brain Female	brain
46	chr11:63998200-63998800	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr11:63998200-63998800	Flanking Active TSS	Dnd41	blood
48	chr11:63998200-63999400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:63998200-64001000	Enhancers	Fetal Brain Male	brain
50	chr11:63998400-63998800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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