Variant report

Variant	nsv525113
Chromosome Location	chr9:100669799-100686815
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	chr9:100684224-100686419	K562	blood:	n/a	n/a
2	ARID3A	chr9:100684260-100686407	HepG2	liver:	n/a	n/a
3	ATF1	chr9:100684282-100685188	K562	blood:	n/a	n/a
4	ATF2	chr9:100685881-100686359	GM12878	blood:	n/a	n/a
5	ATF2	chr9:100684077-100684951	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr9:100685794-100686333	GM12878	blood:	n/a	n/a
7	ATF2	chr9:100683989-100685050	GM12878	blood:	n/a	n/a
8	ATF2	chr9:100684058-100684887	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr9:100684073-100685301	GM12878	blood:	n/a	n/a
10	ATF3	chr9:100685442-100686231	A549	lung:	n/a	n/a
11	ATF3	chr9:100684331-100684942	HepG2	liver:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
12	ATF3	chr9:100684382-100684867	H1-hESC	embryonic stem cell:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
13	ATF3	chr9:100684335-100684912	K562	blood:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
14	ATF3	chr9:100684283-100684965	K562	blood:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
15	ATF3	chr9:100684387-100684853	GM12878	blood:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
16	ATF3	chr9:100684204-100684919	HepG2	liver:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
17	ATF3	chr9:100684269-100684998	GM12878	blood:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
18	ATF3	chr9:100684113-100685004	A549	lung:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
19	ATF3	chr9:100684173-100685023	A549	lung:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
20	ATF3	chr9:100684355-100684943	K562	blood:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
21	ATF3	chr9:100684264-100684929	H1-hESC	embryonic stem cell:	n/a	chr9:100684512-100684523 chr9:100684509-100684524 chr9:100684513-100684521 chr9:100684512-100684520 chr9:100684510-100684520 chr9:100684512-100684526 chr9:100684509-100684522 chr9:100684510-100684523 chr9:100684513-100684523 chr9:100684513-100684520 chr9:100684511-100684524 chr9:100684513-100684524
22	BACH1	chr9:100685877-100686394	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr9:100684453-100684954	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr9:100682774-100682817	K562	blood:	n/a	n/a
25	BATF	chr9:100684313-100684720	GM12878	blood:	n/a	chr9:100684510-100684523
26	BCL3	chr9:100684092-100685019	A549	lung:	n/a	n/a
27	BCL3	chr9:100684271-100684677	GM12878	blood:	n/a	n/a
28	BCL3	chr9:100684217-100685198	A549	lung:	n/a	n/a
29	BCLAF1	chr9:100684146-100684894	GM12878	blood:	n/a	n/a
30	BCLAF1	chr9:100684095-100685164	GM12878	blood:	n/a	n/a
31	BCLAF1	chr9:100685751-100686416	GM12878	blood:	n/a	n/a
32	BHLHE40	chr9:100684232-100685098	HepG2	liver:	n/a	chr9:100684553-100684566 chr9:100684555-100684564 chr9:100684549-100684570 chr9:100684555-100684564 chr9:100684556-100684565
33	BHLHE40	chr9:100684317-100684818	A549	lung:	n/a	chr9:100684553-100684566 chr9:100684555-100684564 chr9:100684549-100684570 chr9:100684555-100684564 chr9:100684556-100684565
34	BHLHE40	chr9:100684180-100685080	GM12878	blood:	n/a	chr9:100684553-100684566 chr9:100684555-100684564 chr9:100684549-100684570 chr9:100684555-100684564 chr9:100684556-100684565
35	BHLHE40	chr9:100685928-100686340	GM12878	blood:	n/a	n/a
36	BHLHE40	chr9:100684247-100685102	K562	blood:	n/a	chr9:100684553-100684566 chr9:100684555-100684564 chr9:100684549-100684570 chr9:100684555-100684564 chr9:100684556-100684565
37	BRCA1	chr9:100684299-100684980	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr9:100684279-100684784	HepG2	liver:	n/a	n/a
39	BRCA1	chr9:100684333-100684994	GM12878	blood:	n/a	n/a
40	BRCA1	chr9:100684185-100685089	H1-hESC	embryonic stem cell:	n/a	n/a
41	CBX3	chr9:100684197-100685341	K562	blood:	n/a	n/a
42	CBX3	chr9:100685383-100686362	K562	blood:	n/a	chr9:100685819-100685830
43	CBX3	chr9:100684283-100685288	K562	blood:	n/a	n/a
44	CCNT2	chr9:100684409-100685098	K562	blood:	n/a	n/a
45	CCNT2	chr9:100686758-100686947	K562	blood:	n/a	n/a
46	CEBPB	chr9:100684434-100684726	GM12878	blood:	n/a	n/a
47	CEBPB	chr9:100684248-100685222	K562	blood:	n/a	chr9:100685192-100685205
48	CEBPB	chr9:100684324-100685152	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr9:100684983-100685005	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr9:100685817-100686486	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100681080-100681130	AG09309	skin:	n/a
2	chr9:100684771-100684821	HRPEpiC	eye:	n/a
3	chr9:100685193-100685243	HRE	kidney:	n/a
4	chr9:100681080-100681130	SAEC	small airway:	n/a
5	chr9:100685050-100685100	AG10803	skin:	n/a
6	chr9:100684122-100684172	Hepatocyte	liver:	n/a
7	chr9:100684771-100684821	A549	lung:	n/a
8	chr9:100685127-100685177	BJ	skin:	n/a
9	chr9:100685050-100685100	PANC-1	pancreas:	n/a
10	chr9:100685193-100685243	SK-N-SH	brain:	n/a
11	chr9:100681080-100681130	AG09319	gingival:	n/a
12	chr9:100685050-100685100	HMEC	breast:	n/a
13	chr9:100685193-100685243	AoSMC	blood vessel:	n/a
14	chr9:100684122-100684172	HRCEpiC	kidney:	n/a
15	chr9:100685050-100685100	Hepatocyte	liver:	n/a
16	chr9:100684122-100684172	HCPEpiC	choroid plexus:	n/a
17	chr9:100685050-100685100	SK-N-SH	brain:	n/a
18	chr9:100685127-100685177	NT2-D1	testis:	n/a
19	chr9:100684771-100684821	SKMC	muscle:	n/a
20	chr9:100681080-100681130	HCPEpiC	choroid plexus:	n/a
21	chr9:100684122-100684172	GM12891	blood:	n/a
22	chr9:100685050-100685100	H1-hESC	embryonic stem cell:	embryo
23	chr9:100685193-100685243	Jurkat	blood:	n/a
24	chr9:100685050-100685100	AG09309	skin:	n/a
25	chr9:100684122-100684172	HL-60	blood:	n/a
26	chr9:100681080-100681130	IMR90	lung:	fetal
27	chr9:100685127-100685177	MCF10A-Er-Src	breast:	n/a
28	chr9:100681080-100681130	HRCEpiC	kidney:	n/a
29	chr9:100685050-100685100	GM19239	blood:	n/a
30	chr9:100684122-100684172	GM06990	blood:	n/a
31	chr9:100685193-100685243	HRCEpiC	kidney:	n/a
32	chr9:100685050-100685100	LNCaP	prostate:	n/a
33	chr9:100684122-100684172	IMR90	lung:	fetal
34	chr9:100685193-100685243	GM12892	blood:	n/a
35	chr9:100685127-100685177	NB4	blood:	n/a
36	chr9:100685193-100685243	SK-N-MC	brain:	n/a
37	chr9:100685193-100685243	NT2-D1	testis:	n/a
38	chr9:100684771-100684821	HIPEpiC	eye:	n/a
39	chr9:100685193-100685243	HPAEpiC	pulmonary alveolar:	n/a
40	chr9:100685193-100685243	K562	blood:	n/a
41	chr9:100684771-100684821	ovcar-3	ovarian:	n/a
42	chr9:100681080-100681130	HCM	heart:	n/a
43	chr9:100685050-100685100	MCF10A-Er-Src	breast:	n/a
44	chr9:100685050-100685100	HCM	heart:	n/a
45	chr9:100685127-100685177	CMK	blood:	n/a
46	chr9:100684122-100684172	HepG2	liver:	n/a
47	chr9:100684122-100684172	MCF10A-Er-Src	breast:	n/a
48	chr9:100685127-100685177	A549	lung:	n/a
49	chr9:100685050-100685100	SK-N-MC	brain:	n/a
50	chr9:100684122-100684172	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:131894199..131896837-chr9:100685147..100687682,2	MCF-7	breast:
2	chr9:100685744..100686543-chr9:100746288..100747162,2	MCF-7	breast:
3	chr9:100679777..100682034-chr9:100778305..100780071,2	K562	blood:
4	chr2:204400007..204400680-chr9:100684347..100685133,2	Hela-S3	cervix:
5	chr6:133561719..133562540-chr9:100684595..100685146,2	Hela-S3	cervix:
6	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
7	chr9:100683079..100687048-chr9:101015405..101020638,4	K562	blood:
8	chr19:34662477..34663112-chr9:100684888..100685419,2	Hela-S3	cervix:
9	chr9:100683922..100686421-chr9:100749688..100751954,2	MCF-7	breast:
10	chr9:100686277..100688519-chr9:100689376..100691185,2	MCF-7	breast:
11	chr9:100682586..100684494-chr9:100954318..100956463,2	MCF-7	breast:
12	chr9:100686308..100689678-chr9:101021142..101024168,3	MCF-7	breast:
13	chr9:100685020..100686845-chr9:100716549..100717520,12	K562	blood:
14	chr9:100684661..100686943-chr9:100794140..100799259,5	K562	blood:
15	chr9:100677016..100678517-chr9:100817759..100820189,2	MCF-7	breast:
16	chr9:100685001..100687073-chr9:100804782..100806329,2	K562	blood:
17	chr10:35484287..35485259-chr9:100684125..100684996,2	Hela-S3	cervix:
18	chr9:100685785..100686517-chr9:100796418..100797247,3	MCF-7	breast:
19	chr9:100393929..100396893-chr9:100683273..100687162,3	K562	blood:
20	chr2:73612640..73613510-chr9:100684147..100685046,2	Hela-S3	cervix:
21	chr9:100671518..100673484-chr9:100683338..100685757,2	MCF-7	breast:
22	chr9:100458137..100459680-chr9:100684005..100686050,2	MCF-7	breast:
23	chr9:100685498..100686359-chr9:100796718..100798043,9	MCF-7	breast:
24	chr9:100466474..100468807-chr9:100682892..100684747,2	MCF-7	breast:
25	chr9:100672450..100674303-chr9:100745722..100748093,2	K562	blood:
26	chr9:100647081..100648971-chr9:100671195..100672929,2	K562	blood:
27	chr16:10674320..10675054-chr9:100684357..100685157,2	Hela-S3	cervix:
28	chr2:162016997..162017961-chr9:100684374..100684996,2	Hela-S3	cervix:
29	chr9:100661983..100664921-chr9:100679667..100682904,3	MCF-7	breast:
30	chr4:52710261..52711062-chr9:100684451..100685047,2	Hela-S3	cervix:
31	chr17:7387588..7388177-chr9:100684359..100685331,2	Hela-S3	cervix:
32	chr9:100685658..100686243-chr9:100773528..100774347,2	MCF-7	breast:
33	chr9:100683217..100685598-chr9:100817702..100819594,2	MCF-7	breast:
34	chr9:100680787..100683644-chr9:100817248..100819899,3	K562	blood:
35	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
36	chr9:100435124..100437467-chr9:100674905..100676458,2	K562	blood:
37	chr9:100663583..100665725-chr9:100672529..100674637,2	K562	blood:
38	chr9:100686261..100688755-chr9:100806613..100809213,2	K562	blood:
39	chr9:100394343..100396600-chr9:100677965..100680117,2	MCF-7	breast:
40	chr9:100674231..100678302-chr9:100744904..100747134,4	MCF-7	breast:
41	chr9:100683358..100685652-chr9:101557664..101560368,2	K562	blood:
42	chr9:100685383..100686650-chr9:100796663..100797820,11	K562	blood:
43	chr9:100665233..100671095-chr9:100679720..100686341,8	MCF-7	breast:
44	chr1:145507315..145508085-chr9:100684014..100684726,2	Hela-S3	cervix:
45	chr9:100684436..100684977-chrX:40440205..40441030,2	Hela-S3	cervix:
46	chr19:5690248..5690846-chr9:100684329..100685317,2	Hela-S3	cervix:
47	chr9:100681549..100683928-chr9:100781112..100782667,2	K562	blood:
48	chr20:48599018..48599575-chr9:100684497..100685019,2	Hela-S3	cervix:
49	chr9:100668512..100673720-chr9:100674176..100679549,8	K562	blood:
50	chr2:201981489..201982019-chr9:100684640..100685215,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HEMGN-3	chr9:100671100-100671593	l_3819_chr9:100671099-100674605_testes
2	lnc-HEMGN-3	chr9:100674292-100674605	l_3819_chr9:100671099-100674605_testes

Variant related genes	Relation type
C9orf156	TF binding region
ENSG00000201830	TF binding region
C9orf156	CpG island
ENSG00000201830	CpG island
ENSG00000095794	chromatin interactions
ENSG00000155876	chromatin interactions
ENSG00000212521	chromatin interactions
ENSG00000003402	chromatin interactions
ENSG00000201830	chromatin interactions
ENSG00000234222	chromatin interactions
ENSG00000106789	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000214417	chromatin interactions
ENSG00000213853	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000109184	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000136936	chromatin interactions
ENSG00000136560	chromatin interactions
ENSG00000112319	chromatin interactions
ENSG00000130255	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000117395	chromatin interactions
ENSG00000122779	chromatin interactions
ENSG00000124216	chromatin interactions
ENSG00000106785	chromatin interactions
ENSG00000116127	chromatin interactions
ENSG00000213719	chromatin interactions
ENSG00000141198	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000165138	chromatin interactions
ENSG00000173166	chromatin interactions
ENSG00000131795	chromatin interactions
ENSG00000182220	chromatin interactions
ENSG00000095383	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000136925	chromatin interactions
ENSG00000136937	chromatin interactions
ENSG00000243710	chromatin interactions
ENSG00000236896	chromatin interactions

Extended variants
information (count: 645 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1561958	chr9:100669799-100669800	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75174087	chr9:100669808-100669809	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs370612642	chr9:100669939-100669940	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs188660255	chr9:100669953-100669954	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574573570	chr9:100669969-100669970	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs541566298	chr9:100670007-100670008	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs563053207	chr9:100670011-100670012	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs530493234	chr9:100670039-100670040	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs551770325	chr9:100670054-100670055	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs564052545	chr9:100670072-100670073	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs367687324	chr9:100670118-100670119	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113251294	chr9:100670119-100670120	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs532721921	chr9:100670171-100670172	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs548065091	chr9:100670173-100670174	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs566180474	chr9:100670231-100670232	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs192964408	chr9:100670252-100670253	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs1561957	chr9:100670272-100670273	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs114017020	chr9:100670276-100670277	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs570188394	chr9:100670415-100670416	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs537509757	chr9:100670420-100670421	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs568074410	chr9:100670421-100670422	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs577148342	chr9:100670422-100670423	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs185628461	chr9:100670423-100670424	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs535396205	chr9:100670433-100670434	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs574604697	chr9:100670460-100670461	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs10984290	chr9:100670461-100670462	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556702918	chr9:100670465-100670466	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs536760194	chr9:100670466-100670467	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs148936487	chr9:100670468-100670469	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs143641098	chr9:100670477-100670478	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs151226469	chr9:100670490-100670491	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576130308	chr9:100670498-100670499	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs539800591	chr9:100670502-100670503	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs34888442	chr9:100670503-100670504	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146984242	chr9:100670510-100670511	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs34945071	chr9:100670527-100670528	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570249789	chr9:100670550-100670551	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs377126237	chr9:100670554-100670555	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs552638312	chr9:100670562-100670563	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs7019196	chr9:100670563-100670564	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs369229175	chr9:100670567-100670568	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs553046173	chr9:100670587-100670588	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs568029501	chr9:100670594-100670595	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs112205010	chr9:100670600-100670601	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs7042459	chr9:100670610-100670611	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556765982	chr9:100670618-100670619	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs190250547	chr9:100670622-100670623	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs545531411	chr9:100670625-100670626	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs557841578	chr9:100670656-100670657	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs572802716	chr9:100670677-100670678	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1107 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100656200-100670400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:100656400-100669800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:100656400-100669800	Weak transcription	Fetal Brain Female	brain
4	chr9:100656800-100672400	Weak transcription	Stomach Mucosa	stomach
5	chr9:100658200-100671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:100658400-100671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:100658600-100671600	Weak transcription	Ovary	ovary
8	chr9:100658600-100671600	Weak transcription	Small Intestine	intestine
9	chr9:100658600-100672200	Weak transcription	Esophagus	oesophagus
10	chr9:100658800-100681800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:100660200-100671200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:100661200-100669800	Weak transcription	K562	blood
13	chr9:100662800-100684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:100663000-100672200	Weak transcription	Colonic Mucosa	Colon
15	chr9:100663200-100671600	Weak transcription	HSMMtube	muscle
16	chr9:100663200-100671800	Weak transcription	NH-A	brain
17	chr9:100663200-100672000	Weak transcription	HepG2	liver
18	chr9:100663200-100672200	Weak transcription	HSMM	muscle
19	chr9:100663400-100670200	Weak transcription	NHLF	lung
20	chr9:100663400-100671200	Weak transcription	Brain Angular Gyrus	brain
21	chr9:100663400-100671600	Weak transcription	NHDF-Ad	bronchial
22	chr9:100663400-100672600	Weak transcription	A549	lung
23	chr9:100663600-100671000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:100664000-100673200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:100664400-100672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:100665400-100671600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr9:100665400-100679000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:100665600-100671000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:100665600-100671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:100665600-100678200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr9:100665800-100671800	Weak transcription	HMEC	breast
32	chr9:100666200-100671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:100666600-100669800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr9:100666600-100675400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:100666600-100676000	Strong transcription	Fetal Intestine Large	intestine
36	chr9:100666800-100670200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:100666800-100675800	Strong transcription	Fetal Stomach	stomach
38	chr9:100667000-100675800	Strong transcription	Fetal Intestine Small	intestine
39	chr9:100667200-100670000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr9:100667200-100679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:100667200-100684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:100667400-100671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:100667400-100671000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:100667400-100671600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr9:100667400-100671600	Weak transcription	NHEK	skin
46	chr9:100667400-100672200	Weak transcription	Fetal Lung	lung
47	chr9:100667600-100669800	Enhancers	Primary B cells from peripheral blood	blood
48	chr9:100667600-100670200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:100667600-100670400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr9:100667600-100671200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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