Variant report

Variant	nsv519849
Chromosome Location	chr9:116111407-116144973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1104)
CpG islands
(count:732)
Chromatin interactive
region (count:100)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:116126185-116126530	K562	blood:	n/a	n/a
2	ARID3A	chr9:116127307-116127593	K562	blood:	n/a	n/a
3	ARID3A	chr9:116117550-116117823	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:116144360-116144724	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:116123606-116123749	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:116131138-116131767	K562	blood:	n/a	n/a
7	ARID3A	chr9:116141440-116141630	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:116114433-116114668	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:116139127-116139456	HepG2	liver:	n/a	n/a
10	ATF1	chr9:116131294-116131700	K562	blood:	n/a	n/a
11	ATF1	chr9:116126194-116126233	K562	blood:	n/a	n/a
12	ATF2	chr9:116138986-116139353	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr9:116143051-116143619	GM12878	blood:	n/a	n/a
14	ATF3	chr9:116126089-116126414	K562	blood:	n/a	n/a
15	ATF3	chr9:116126158-116126331	K562	blood:	n/a	n/a
16	ATF3	chr9:116139055-116139313	K562	blood:	n/a	n/a
17	BACH1	chr9:116114741-116115156	K562	blood:	n/a	n/a
18	BACH1	chr9:116139114-116139222	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr9:116114828-116115021	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr9:116130706-116130708	K562	blood:	n/a	n/a
21	BATF	chr9:116143108-116143589	GM12878	blood:	n/a	n/a
22	BATF	chr9:116143136-116143558	GM12878	blood:	n/a	n/a
23	BCL11A	chr9:116143154-116143562	GM12878	blood:	n/a	n/a
24	BCL11A	chr9:116143244-116143474	GM12878	blood:	n/a	n/a
25	BCL3	chr9:116143133-116143500	GM12878	blood:	n/a	n/a
26	BCLAF1	chr9:116143129-116143573	GM12878	blood:	n/a	n/a
27	BCLAF1	chr9:116138877-116139188	GM12878	blood:	n/a	n/a
28	BCLAF1	chr9:116143172-116143521	GM12878	blood:	n/a	n/a
29	BHLHE40	chr9:116143071-116143530	GM12878	blood:	n/a	n/a
30	BHLHE40	chr9:116139475-116139701	K562	blood:	n/a	n/a
31	BHLHE40	chr9:116132005-116132020	K562	blood:	n/a	n/a
32	BHLHE40	chr9:116131110-116131598	K562	blood:	n/a	n/a
33	BHLHE40	chr9:116138930-116139215	GM12878	blood:	n/a	n/a
34	BHLHE40	chr9:116114441-116114584	HepG2	liver:	n/a	n/a
35	CBX3	chr9:116112109-116112427	K562	blood:	n/a	n/a
36	CBX3	chr9:116138878-116139282	K562	blood:	n/a	n/a
37	CCNT2	chr9:116111715-116111955	K562	blood:	n/a	chr9:116111788-116111797
38	CCNT2	chr9:116123584-116123784	K562	blood:	n/a	n/a
39	CCNT2	chr9:116131132-116132132	K562	blood:	n/a	chr9:116131405-116131425 chr9:116131461-116131481
40	CCNT2	chr9:116138987-116139670	K562	blood:	n/a	chr9:116139645-116139654
41	CEBPB	chr9:116144314-116144678	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:116131087-116131807	K562	blood:	n/a	n/a
43	CEBPB	chr9:116119939-116120137	HepG2	liver:	n/a	chr9:116120044-116120055
44	CEBPB	chr9:116119974-116120168	IMR90	lung:	n/a	chr9:116120044-116120055
45	CEBPB	chr9:116144344-116144600	HepG2	liver:	n/a	n/a
46	CEBPB	chr9:116144366-116144768	MCF-7	breast:	n/a	n/a
47	CEBPB	chr9:116127860-116128361	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr9:116126158-116126817	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr9:116144339-116144636	HepG2	liver:	n/a	n/a
50	CEBPB	chr9:116126184-116126709	K562	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:116111377-116111427	GM06990	blood:	n/a
2	chr9:116143143-116143193	HNPCEpiC	eye:	n/a
3	chr9:116111676-116111726	NHBE	bronchial:	n/a
4	chr9:116143143-116143193	HCM	heart:	n/a
5	chr9:116138128-116138178	GM12878	blood:	n/a
6	chr9:116143143-116143193	AoSMC	blood vessel:	n/a
7	chr9:116139085-116139135	GM12892	blood:	n/a
8	chr9:116111676-116111726	ProgFib	skin:	n/a
9	chr9:116135281-116135331	U87	brain:	n/a
10	chr9:116114796-116114846	H1-hESC	embryonic stem cell:	embryo
11	chr9:116111618-116111668	AG09319	gingival:	n/a
12	chr9:116111618-116111668	U87	brain:	n/a
13	chr9:116133216-116133266	HCF	heart:	n/a
14	chr9:116139085-116139135	GM06990	blood:	n/a
15	chr9:116133216-116133266	K562	blood:	n/a
16	chr9:116143143-116143193	A549	lung:	n/a
17	chr9:116111377-116111427	AG04450	lung:	fetal
18	chr9:116111377-116111427	U87	brain:	n/a
19	chr9:116111733-116111783	ovcar-3	ovarian:	n/a
20	chr9:116137097-116137147	HL-60	blood:	n/a
21	chr9:116111377-116111427	IMR90	lung:	fetal
22	chr9:116111377-116111427	MCF-7	breast:	n/a
23	chr9:116114796-116114846	PrEC	prostate:	n/a
24	chr9:116114796-116114846	BE2_C	brain:	n/a
25	chr9:116111377-116111427	GM12878	blood:	n/a
26	chr9:116138128-116138178	PANC-1	pancreas:	n/a
27	chr9:116139085-116139135	Jurkat	blood:	n/a
28	chr9:116135281-116135331	HCM	heart:	n/a
29	chr9:116111733-116111783	NHDF-neo	bronchial:	n/a
30	chr9:116114796-116114846	BJ	skin:	n/a
31	chr9:116133216-116133266	RPTEC	kidney:	n/a
32	chr9:116138128-116138178	SAEC	small airway:	n/a
33	chr9:116133216-116133266	ECC-1	luminal epithelium:	n/a
34	chr9:116114796-116114846	HEK293	kidney:	embryo
35	chr9:116111676-116111726	NT2-D1	testis:	n/a
36	chr9:116111459-116111509	HRCEpiC	kidney:	n/a
37	chr9:116138128-116138178	T-47D	breast:	n/a
38	chr9:116138128-116138178	HCM	heart:	n/a
39	chr9:116114796-116114846	SK-N-SH_RA	brain:	n/a
40	chr9:116111618-116111668	SKMC	muscle:	n/a
41	chr9:116111733-116111783	ECC-1	luminal epithelium:	n/a
42	chr9:116139085-116139135	AG09309	skin:	n/a
43	chr9:116114796-116114846	HUVEC	blood vessel:	n/a
44	chr9:116111733-116111783	GM12892	blood:	n/a
45	chr9:116111733-116111783	LNCaP	prostate:	n/a
46	chr9:116111676-116111726	ovcar-3	ovarian:	n/a
47	chr9:116111459-116111509	SK-N-MC	brain:	n/a
48	chr9:116139085-116139135	NHBE	bronchial:	n/a
49	chr9:116133216-116133266	HEK293	kidney:	embryo
50	chr9:116143143-116143193	H1-hESC	embryonic stem cell:	embryo

(count:100 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:116109912..116111859-chr9:116161206..116163943,2	K562	blood:
2	chr9:116111775..116114155-chr9:116135135..116137123,3	MCF-7	breast:
3	chr9:116124299..116128919-chr9:116129296..116133206,5	K562	blood:
4	chr9:116111218..116114895-chr9:116159419..116161993,4	MCF-7	breast:
5	chr9:115196115..115198576-chr9:116119511..116121526,2	K562	blood:
6	chr9:116127846..116129499-chr9:116156115..116158388,2	K562	blood:
7	chr9:116116183..116118289-chr9:116124994..116127482,2	K562	blood:
8	chr9:116133477..116135690-chr9:116141217..116143043,2	K562	blood:
9	chr9:116110213..116113414-chr9:116171126..116174421,5	MCF-7	breast:
10	chr9:116137751..116140184-chr9:116144665..116146448,2	K562	blood:
11	chr9:116133352..116136068-chr9:116190444..116192114,2	K562	blood:
12	chr9:116133477..116135690-chr9:116141217..116143043,2	K562	blood:
13	chr9:116119995..116122506-chr9:116129873..116132566,2	MCF-7	breast:
14	chr9:116142555..116147503-chr9:116159083..116164157,6	MCF-7	breast:
15	chr9:116079936..116083155-chr9:116131441..116134734,3	MCF-7	breast:
16	chr9:116133011..116134792-chr9:116141415..116144551,3	MCF-7	breast:
17	chr9:116116293..116119291-chr9:116122385..116124255,2	K562	blood:
18	chr9:116124595..116126724-chr9:116133634..116135834,3	K562	blood:
19	chr9:116110132..116116489-chr9:116119507..116125005,8	MCF-7	breast:
20	chr15:80215740..80216631-chr9:116137961..116138854,2	Hela-S3	cervix:
21	chr9:116122597..116124839-chr9:116128759..116130936,3	MCF-7	breast:
22	chr9:116125138..116127996-chr9:116129478..116132469,3	K562	blood:
23	chr9:116101733..116104316-chr9:116133698..116137362,3	K562	blood:
24	chr9:116101294..116104058-chr9:116110419..116112658,2	K562	blood:
25	chr9:116116293..116119291-chr9:116122385..116124255,2	K562	blood:
26	chr9:116136647..116140990-chr9:116144919..116148634,5	MCF-7	breast:
27	chr9:116125894..116128604-chr9:116186096..116187911,2	K562	blood:
28	chr9:116125080..116127101-chr9:116139095..116140609,2	K562	blood:
29	chr9:116116926..116118576-chr9:116159060..116160731,2	MCF-7	breast:
30	chr9:116112976..116115054-chr9:116115085..116116590,2	K562	blood:
31	chr9:116100085..116103833-chr9:116137751..116140667,4	MCF-7	breast:
32	chr9:116116765..116119707-chr9:116134717..116136429,2	K562	blood:
33	chr9:116137711..116140473-chr9:116169496..116173211,3	K562	blood:
34	chr9:116037280..116038788-chr9:116133892..116135424,2	MCF-7	breast:
35	chr9:116110885..116114691-chr9:116115090..116117580,4	K562	blood:
36	chr9:116112976..116115054-chr9:116115085..116116590,2	K562	blood:
37	chr9:116129075..116133029-chr9:116162215..116166672,4	K562	blood:
38	chr9:116119997..116122234-chr9:116127833..116130251,2	MCF-7	breast:
39	chr9:116100614..116105784-chr9:116143158..116149337,5	MCF-7	breast:
40	chr9:116127286..116129224-chr9:116135348..116138252,2	K562	blood:
41	chr9:116143362..116148359-chr9:116148402..116150878,4	MCF-7	breast:
42	chr9:116101188..116103344-chr9:116123740..116126307,2	MCF-7	breast:
43	chr9:116101615..116103451-chr9:116120888..116122446,2	MCF-7	breast:
44	chr9:116060077..116063011-chr9:116109868..116112387,2	MCF-7	breast:
45	chr9:116118659..116121326-chr9:116124549..116126674,2	MCF-7	breast:
46	chr9:116122073..116125346-chr9:116133766..116136866,3	MCF-7	breast:
47	chr9:116070123..116071918-chr9:116134499..116138293,3	MCF-7	breast:
48	chr9:116142961..116144680-chr9:116145190..116147516,2	MCF-7	breast:
49	chr9:116071329..116074445-chr9:116134233..116136581,3	MCF-7	breast:
50	chr9:116137664..116140470-chr9:116160302..116166802,9	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf43-3	chr9:116113497-116114564	expReg_chr9_6671_+

No data

Variant related genes	Relation type
BSPRY	TF binding region
HDHD3	TF binding region
BSPRY	CpG island
HDHD3	CpG island
ENSG00000180953	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000119411	chromatin interactions
ENSG00000176386	chromatin interactions
ENSG00000119431	chromatin interactions
ENSG00000148229	chromatin interactions
ENSG00000259332	chromatin interactions
ENSG00000148218	chromatin interactions
ENSG00000148225	chromatin interactions
ENSG00000138835	chromatin interactions
ENSG00000136875	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000165188	chromatin interactions
ENSG00000157653	chromatin interactions

Extended variants
information (count: 1449 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1449 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1998503	chr9:116111407-116111408	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565073040	chr9:116111438-116111439	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs185683392	chr9:116111448-116111449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs550481511	chr9:116111527-116111528	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs76799852	chr9:116111542-116111543	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs371839742	chr9:116111550-116111551	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs191184396	chr9:116111577-116111578	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs182636489	chr9:116111578-116111579	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs73537095	chr9:116111627-116111628	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538718577	chr9:116111702-116111703	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs114062877	chr9:116111723-116111724	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs569412554	chr9:116111790-116111791	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs139982664	chr9:116111806-116111807	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs538415944	chr9:116111849-116111850	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs555320306	chr9:116111928-116111929	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs912246	chr9:116111937-116111938	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs557303447	chr9:116112013-116112014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs73655859	chr9:116112123-116112124	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs575147967	chr9:116112125-116112126	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs567328526	chr9:116112137-116112138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs148027365	chr9:116112213-116112214	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs534190677	chr9:116112235-116112236	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs554125050	chr9:116112272-116112273	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs116447593	chr9:116112283-116112284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs115914810	chr9:116112302-116112303	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs193225700	chr9:116112334-116112335	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs551242049	chr9:116112347-116112348	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs575111200	chr9:116112414-116112415	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs543962310	chr9:116112429-116112430	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs912247	chr9:116112463-116112464	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs529928159	chr9:116112568-116112569	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs183161609	chr9:116112579-116112580	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs368316959	chr9:116112589-116112590	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs537041582	chr9:116112607-116112608	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs532141435	chr9:116112672-116112673	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs7869980	chr9:116112721-116112722	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568828917	chr9:116112755-116112756	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs79636966	chr9:116112787-116112788	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs548755943	chr9:116112807-116112808	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs568821408	chr9:116112848-116112849	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs35915957	chr9:116112962-116112963	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs187888732	chr9:116112997-116112998	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs570842593	chr9:116113080-116113081	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs192049525	chr9:116113108-116113109	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs147184327	chr9:116113139-116113140	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs576087683	chr9:116113141-116113142	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs544043122	chr9:116113167-116113168	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs7870848	chr9:116113201-116113202	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs184507645	chr9:116113212-116113213	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs540504149	chr9:116113247-116113248	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	21346763	CNVD
Melanoma	20877625	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:1569 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116103000-116111800	Weak transcription	Lung	lung
2	chr9:116106600-116111800	Weak transcription	K562	blood
3	chr9:116107600-116111600	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:116108000-116111600	Weak transcription	Brain Angular Gyrus	brain
5	chr9:116108000-116112000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:116108200-116112000	Weak transcription	Brain Substantia Nigra	brain
7	chr9:116108800-116111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:116110200-116112000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:116110400-116111600	Weak transcription	Right Atrium	heart
10	chr9:116111200-116111600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr9:116111200-116111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:116111200-116111600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:116111200-116112000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
14	chr9:116111200-116112400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr9:116111200-116112400	Bivalent/Poised TSS	Fetal Kidney	kidney
16	chr9:116111200-116112400	Active TSS	Rectal Smooth Muscle	rectum
17	chr9:116111200-116112600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr9:116111200-116112600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr9:116111200-116112600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr9:116111200-116112800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr9:116111200-116113000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr9:116111200-116113000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr9:116111200-116113000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr9:116111400-116111600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:116111400-116111600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:116111400-116111600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr9:116111400-116111600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
28	chr9:116111400-116111600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr9:116111400-116111600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr9:116111400-116111600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
31	chr9:116111400-116111600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:116111400-116111600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr9:116111400-116111600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:116111400-116111600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr9:116111400-116111600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr9:116111400-116111600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr9:116111400-116111600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:116111400-116111600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr9:116111400-116111600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:116111400-116111600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:116111400-116111600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:116111400-116111600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr9:116111400-116111600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:116111400-116111600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr9:116111400-116111600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr9:116111400-116111600	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr9:116111400-116111600	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr9:116111400-116111600	Flanking Active TSS	Placenta	Placenta
49	chr9:116111400-116111600	Bivalent Enhancer	Fetal Thymus	thymus
50	chr9:116111400-116111600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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