Variant report

Variant	nsv897638
Chromosome Location	chr11:63676562-63688693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1279)
CpG islands
(count:1467)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1279 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:63685733-63685834	K562	blood:	n/a	n/a
2	ARID3A	chr11:63684556-63684705	HepG2	liver:	n/a	n/a
3	ATF2	chr11:63677295-63677737	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:63683768-63684386	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:63685062-63685545	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:63688498-63688921	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:63685170-63685550	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:63683925-63684279	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr11:63677442-63677555	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr11:63685135-63685939	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr11:63686922-63687047	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:63684750-63684925	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr11:63683714-63684103	A549	lung:	n/a	n/a
14	BCL3	chr11:63685114-63685573	A549	lung:	n/a	chr11:63685539-63685552 chr11:63685535-63685548
15	BHLHE40	chr11:63685246-63685824	GM12878	blood:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
16	BHLHE40	chr11:63685121-63685914	K562	blood:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
17	BHLHE40	chr11:63683951-63684125	K562	blood:	n/a	n/a
18	BHLHE40	chr11:63685215-63685728	HepG2	liver:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
19	BHLHE40	chr11:63684506-63684750	HepG2	liver:	n/a	chr11:63684523-63684539 chr11:63684522-63684538
20	BHLHE40	chr11:63685341-63685669	A549	lung:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
21	BHLHE40	chr11:63684524-63684788	GM12878	blood:	n/a	n/a
22	BHLHE40	chr11:63688602-63688874	K562	blood:	n/a	n/a
23	BHLHE40	chr11:63684516-63684725	K562	blood:	n/a	chr11:63684523-63684539 chr11:63684522-63684538
24	BRCA1	chr11:63683887-63684191	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr11:63684554-63684719	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr11:63685703-63685926	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr11:63688595-63688765	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr11:63688573-63689000	K562	blood:	n/a	n/a
29	CBX3	chr11:63684460-63684742	K562	blood:	n/a	n/a
30	CBX3	chr11:63685301-63686002	K562	blood:	n/a	n/a
31	CCNT2	chr11:63685334-63686012	K562	blood:	n/a	chr11:63685353-63685362 chr11:63685422-63685431
32	CCNT2	chr11:63686873-63687131	K562	blood:	n/a	n/a
33	CCNT2	chr11:63683828-63684752	K562	blood:	n/a	chr11:63684679-63684688 chr11:63684223-63684232
34	CEBPB	chr11:63686472-63686649	IMR90	lung:	n/a	n/a
35	CEBPB	chr11:63687579-63687904	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr11:63686481-63686634	HepG2	liver:	n/a	n/a
37	CEBPB	chr11:63687755-63687952	HepG2	liver:	n/a	n/a
38	CEBPB	chr11:63685689-63685746	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr11:63683886-63684083	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr11:63686509-63686738	K562	blood:	n/a	n/a
41	CEBPB	chr11:63686433-63687120	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPD	chr11:63686717-63687260	HepG2	liver:	n/a	n/a
43	CEBPD	chr11:63687598-63688129	HepG2	liver:	n/a	n/a
44	CEBPD	chr11:63684519-63684839	HepG2	liver:	n/a	n/a
45	CHD1	chr11:63678273-63678279	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr11:63684124-63684245	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr11:63685771-63686019	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr11:63686287-63686688	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr11:63686993-63687661	H1-hESC	embryonic stem cell:	n/a	chr11:63687203-63687213
50	CHD2	chr11:63677370-63677610	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63676760-63676810	NH-A	brain:	n/a
2	chr11:63679637-63679687	AoSMC	blood vessel:	n/a
3	chr11:63687937-63687987	HRPEpiC	eye:	n/a
4	chr11:63676760-63676810	NH-A	brain:	n/a
5	chr11:63679637-63679687	AoSMC	blood vessel:	n/a
6	chr11:63687937-63687987	HRPEpiC	eye:	n/a
7	chr11:63688531-63688581	SK-N-SH	brain:	n/a
8	chr11:63683019-63683069	Hela-S3	cervix:	n/a
9	chr11:63679532-63679582	HCPEpiC	choroid plexus:	n/a
10	chr11:63679088-63679138	GM19239	blood:	n/a
11	chr11:63679532-63679582	HCT-116	colon:	n/a
12	chr11:63684164-63684214	AG04450	lung:	fetal
13	chr11:63687937-63687987	NB4	blood:	n/a
14	chr11:63687247-63687297	MCF10A-Er-Src	breast:	n/a
15	chr11:63684106-63684156	CMK	blood:	n/a
16	chr11:63684164-63684214	HEK293	kidney:	embryo
17	chr11:63687223-63687273	HRCEpiC	kidney:	n/a
18	chr11:63684601-63684651	NB4	blood:	n/a
19	chr11:63679637-63679687	SK-N-SH	brain:	n/a
20	chr11:63679432-63679482	Jurkat	blood:	n/a
21	chr11:63684601-63684651	GM12878	blood:	n/a
22	chr11:63687247-63687297	SK-N-MC	brain:	n/a
23	chr11:63679432-63679482	HepG2	liver:	n/a
24	chr11:63688531-63688581	AG09319	gingival:	n/a
25	chr11:63681486-63681536	LNCaP	prostate:	n/a
26	chr11:63684911-63684961	HCF	heart:	n/a
27	chr11:63678193-63678243	RPTEC	kidney:	n/a
28	chr11:63677197-63677247	NHDF-neo	bronchial:	n/a
29	chr11:63679532-63679582	Jurkat	blood:	n/a
30	chr11:63687223-63687273	H1-hESC	embryonic stem cell:	embryo
31	chr11:63684597-63684647	HRPEpiC	eye:	n/a
32	chr11:63684597-63684647	NH-A	brain:	n/a
33	chr11:63676611-63676661	AG09309	skin:	n/a
34	chr11:63679088-63679138	Hela-S3	cervix:	n/a
35	chr11:63685777-63685827	HEK293	kidney:	embryo
36	chr11:63679432-63679482	AG04449	skin:	fetal
37	chr11:63681486-63681536	GM06990	blood:	n/a
38	chr11:63688531-63688581	AG04450	lung:	fetal
39	chr11:63684331-63684381	HCPEpiC	choroid plexus:	n/a
40	chr11:63683744-63683794	HAEpiC	amniotic membrane:	n/a
41	chr11:63676611-63676661	Jurkat	blood:	n/a
42	chr11:63688531-63688581	CMK	blood:	n/a
43	chr11:63679637-63679687	SK-N-MC	brain:	n/a
44	chr11:63684601-63684651	H1-hESC	embryonic stem cell:	embryo
45	chr11:63679637-63679687	A549	lung:	n/a
46	chr11:63681486-63681536	HNPCEpiC	eye:	n/a
47	chr11:63676760-63676810	PrEC	prostate:	n/a
48	chr11:63677197-63677247	ProgFib	skin:	n/a
49	chr11:63687937-63687987	AG09309	skin:	n/a
50	chr11:63685905-63685955	HNPCEpiC	eye:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:63683781..63686730-chr11:63932079..63933586,2	K562	blood:
2	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:
3	chr11:63675618..63677847-chr11:63705967..63707596,2	K562	blood:
4	chr11:63683951..63686895-chr11:63953660..63955644,2	MCF-7	breast:
5	chr11:63687502..63689214-chr11:63695496..63697632,2	MCF-7	breast:
6	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
7	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
8	chr11:63687862..63689839-chr11:63702053..63703674,2	MCF-7	breast:
9	chr11:63675134..63677660-chr11:63705818..63708740,2	MCF-7	breast:
10	chr11:63605364..63607931-chr11:63685287..63688151,2	MCF-7	breast:
11	chr11:63663467..63666337-chr11:63684707..63687622,3	MCF-7	breast:
12	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
13	chr11:63534031..63536529-chr11:63677173..63679815,2	K562	blood:
14	chr11:63655788..63657631-chr11:63684271..63685886,2	K562	blood:
15	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
16	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
17	chr11:63686117..63687748-chr11:63991858..63993685,2	K562	blood:
18	chr11:63668978..63670903-chr11:63681727..63683409,2	K562	blood:
19	chr11:63535779..63536323-chr11:63683262..63684232,2	MCF-7	breast:
20	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
21	chr11:63682847..63685544-chr11:63752668..63755278,2	MCF-7	breast:
22	chr11:63682437..63684177-chr8:101963345..101965664,2	MCF-7	breast:
23	chr11:63684393..63687142-chr11:63694505..63697454,4	MCF-7	breast:
24	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:
25	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
26	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
27	chr11:63684351..63687811-chr11:63692947..63696202,6	K562	blood:
28	chr11:63686068..63688913-chr11:63752506..63754962,2	MCF-7	breast:
29	chr1:43312323..43313084-chr11:63685388..63685981,2	Hela-S3	cervix:
30	chr11:63685160..63687637-chr11:63739324..63744119,5	K562	blood:
31	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
32	chr11:63687365..63689977-chr11:63690538..63692122,2	K562	blood:
33	chr11:63655944..63659317-chr11:63674342..63677172,3	K562	blood:
34	chr11:63605250..63607360-chr11:63674214..63677570,3	MCF-7	breast:
35	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
36	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
37	chr11:63685552..63686203-chr2:74374074..74375012,2	Hela-S3	cervix:
38	chr11:63684384..63686159-chr11:63693977..63696781,2	MCF-7	breast:
39	chr11:63684287..63687288-chr11:63687997..63690522,4	MCF-7	breast:
40	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
41	chr11:63535119..63536110-chr11:63688278..63689081,3	K562	blood:
42	chr11:63685870..63687759-chr11:63698939..63701005,2	MCF-7	breast:
43	chr11:63686655..63689035-chr11:63752161..63754305,2	K562	blood:
44	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
45	chr11:63684119..63685906-chr11:63753939..63756013,2	MCF-7	breast:
46	chr11:63685675..63686195-chr2:136874998..136875975,2	Hela-S3	cervix:
47	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
48	chr11:63683405..63684071-chr11:63712749..63713693,2	MCF-7	breast:
49	chr11:63680773..63683406-chr11:63684086..63687112,3	MCF-7	breast:
50	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MARK2	hsa-miR-193b-3p	chr11:63677923-63677945
2	MARK2	hsa-miR-193b-3p	chr11:63677938-63677944

Variant related genes	Relation type
RCOR2	TF binding region
RCOR2	CpG island
ENSG00000255651	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000167771	chromatin interactions
ENSG00000167770	chromatin interactions
ENSG00000149743	chromatin interactions
ENSG00000256100	chromatin interactions
ENSG00000149761	chromatin interactions
ENSG00000110583	chromatin interactions
ENSG00000072518	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000121966	chromatin interactions

Extended variants
information (count: 489 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs320107	chr11:63676562-63676563	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188529927	chr11:63676568-63676569	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs375430054	chr11:63676599-63676600	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs375932054	chr11:63676610-63676611	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs145462100	chr11:63676667-63676668	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370112175	chr11:63676679-63676680	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540924870	chr11:63676719-63676720	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372628143	chr11:63676730-63676731	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs539595398	chr11:63676770-63676771	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs560808565	chr11:63676809-63676810	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs369497487	chr11:63676831-63676832	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs182664	chr11:63676896-63676897	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542210682	chr11:63676939-63676940	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs192906403	chr11:63676943-63676944	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs531271423	chr11:63676972-63676973	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs183844595	chr11:63677007-63677008	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs80317858	chr11:63677068-63677069	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs144226146	chr11:63677095-63677096	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs527533117	chr11:63677120-63677121	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs557974420	chr11:63677281-63677282	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs567183637	chr11:63677308-63677309	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs576316989	chr11:63677346-63677347	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs34897385	chr11:63677375-63677376	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs531493364	chr11:63677383-63677384	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs187941614	chr11:63677386-63677387	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs192980502	chr11:63677391-63677392	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs569249548	chr11:63677407-63677408	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs554033349	chr11:63677416-63677417	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537376496	chr11:63677420-63677421	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs577094160	chr11:63677464-63677465	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs537938608	chr11:63677483-63677484	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs558278127	chr11:63677495-63677496	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs578210110	chr11:63677519-63677520	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs539630320	chr11:63677539-63677540	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs148805165	chr11:63677573-63677574	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs554408036	chr11:63677602-63677603	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs574358284	chr11:63677619-63677620	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs370272556	chr11:63677656-63677657	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs372515074	chr11:63677693-63677694	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs534923802	chr11:63677743-63677744	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs543319947	chr11:63677777-63677778	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs183693933	chr11:63677778-63677779	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs576013031	chr11:63677829-63677830	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs576326374	chr11:63677837-63677838	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs142456745	chr11:63677870-63677871	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs10736731	chr11:63677932-63677933	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs561776600	chr11:63677953-63677954	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs115787633	chr11:63677976-63677977	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs200498816	chr11:63678124-63678125	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs558448437	chr11:63678126-63678127	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 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
Breast cancer	22522925	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:1237 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63657400-63677800	Strong transcription	Dnd41	blood
2	chr11:63658800-63678400	Strong transcription	Primary B cells from cord blood	blood
3	chr11:63659400-63678600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:63659600-63680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:63659800-63678000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
7	chr11:63660800-63678000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr11:63661000-63677800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:63661000-63678000	Strong transcription	Liver	Liver
10	chr11:63661200-63678600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:63661600-63677400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:63661600-63678000	Strong transcription	Thymus	Thymus
13	chr11:63661600-63678000	Strong transcription	NHEK	skin
14	chr11:63662200-63677400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:63662400-63677800	Strong transcription	Esophagus	oesophagus
16	chr11:63662400-63679200	Strong transcription	Colonic Mucosa	Colon
17	chr11:63662400-63679200	Strong transcription	Gastric	stomach
18	chr11:63663600-63676600	Strong transcription	Aorta	Aorta
19	chr11:63664000-63676800	Strong transcription	HMEC	breast
20	chr11:63664000-63677400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:63664000-63678600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:63664200-63677600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:63664200-63678400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:63664200-63679200	Strong transcription	Primary T cells from cord blood	blood
25	chr11:63664400-63676800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr11:63664400-63678800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:63664400-63679200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:63664600-63680400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:63666400-63677800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:63669600-63683200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:63670000-63683200	Weak transcription	K562	blood
32	chr11:63670000-63683400	Weak transcription	HSMM	muscle
33	chr11:63670800-63681600	Weak transcription	GM12878-XiMat	blood
34	chr11:63671000-63681800	Weak transcription	HUVEC	blood vessel
35	chr11:63671000-63683800	Weak transcription	NHDF-Ad	bronchial
36	chr11:63671600-63677000	Strong transcription	Hela-S3	cervix
37	chr11:63672000-63677200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:63672200-63682600	Weak transcription	HepG2	liver
39	chr11:63672200-63682600	Weak transcription	NH-A	brain
40	chr11:63672400-63679400	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr11:63672400-63683200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:63672400-63683800	Weak transcription	Psoas Muscle	Psoas
43	chr11:63672600-63679800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:63673200-63678800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:63673200-63680400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:63673200-63682600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:63673200-63683200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:63673400-63676600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:63673400-63678000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:63673600-63676800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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