Variant report

Variant	nsv615745
Chromosome Location	chr9:136844973-136876021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1651)
CpG islands
(count:916)
Chromatin interactive
region (count:83)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:136856048-136856079	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:136859562-136859782	HepG2	liver:	n/a	n/a
3	BACH1	chr9:136856855-136856872	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:136856324-136856351	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:136858165-136858241	K562	blood:	n/a	n/a
6	BACH1	chr9:136857281-136858367	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr9:136857104-136857688	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857667-136857680 chr9:136857587-136857600
8	BCL3	chr9:136857966-136858629	A549	lung:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
9	BCLAF1	chr9:136857949-136858391	GM12878	blood:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
10	BCLAF1	chr9:136857182-136857925	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857722-136857735 chr9:136857667-136857680 chr9:136857587-136857600 chr9:136857703-136857716
11	BHLHE40	chr9:136859506-136859800	K562	blood:	n/a	n/a
12	BHLHE40	chr9:136857536-136857643	K562	blood:	n/a	n/a
13	BHLHE40	chr9:136869721-136869754	GM12878	blood:	n/a	n/a
14	BHLHE40	chr9:136859537-136859868	GM12878	blood:	n/a	n/a
15	BHLHE40	chr9:136858022-136858718	GM12878	blood:	n/a	chr9:136858292-136858308
16	BHLHE40	chr9:136857175-136857795	GM12878	blood:	n/a	chr9:136857723-136857739
17	BHLHE40	chr9:136856410-136856656	GM12878	blood:	n/a	n/a
18	BHLHE40	chr9:136869547-136869987	K562	blood:	n/a	chr9:136869715-136869728 chr9:136869957-136869973 chr9:136869906-136869915 chr9:136869716-136869725
19	BHLHE40	chr9:136858375-136858412	K562	blood:	n/a	n/a
20	BHLHE40	chr9:136869497-136870038	HepG2	liver:	n/a	chr9:136869715-136869728 chr9:136869957-136869973 chr9:136869906-136869915 chr9:136869716-136869725
21	BHLHE40	chr9:136857238-136857657	HepG2	liver:	n/a	n/a
22	BRCA1	chr9:136859571-136859661	HepG2	liver:	n/a	n/a
23	BRCA1	chr9:136859697-136859701	GM12878	blood:	n/a	n/a
24	BRCA1	chr9:136859495-136859859	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr9:136856472-136856482	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr9:136858624-136858795	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr9:136857229-136857386	Hela-S3	cervix:	n/a	n/a
28	CCNT2	chr9:136857387-136858522	K562	blood:	n/a	chr9:136858030-136858039 chr9:136858444-136858453
29	CEBPB	chr9:136858552-136858776	HepG2	liver:	n/a	n/a
30	CEBPB	chr9:136858693-136858716	K562	blood:	n/a	n/a
31	CEBPB	chr9:136858175-136858310	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr9:136859558-136859784	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr9:136857190-136857515	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr9:136859569-136859830	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr9:136862197-136862411	HepG2	liver:	n/a	chr9:136862275-136862286
36	CEBPB	chr9:136852347-136852415	HepG2	liver:	n/a	n/a
37	CEBPB	chr9:136856519-136856548	HepG2	liver:	n/a	n/a
38	CEBPB	chr9:136862155-136862420	Hela-S3	cervix:	n/a	chr9:136862275-136862286
39	CEBPB	chr9:136864401-136864645	IMR90	lung:	n/a	chr9:136864525-136864536
40	CEBPB	chr9:136856052-136856100	HepG2	liver:	n/a	n/a
41	CEBPB	chr9:136858000-136858845	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr9:136862116-136862444	IMR90	lung:	n/a	chr9:136862275-136862286
43	CEBPB	chr9:136856033-136856632	Hela-S3	cervix:	n/a	n/a
44	CEBPD	chr9:136857224-136858245	HepG2	liver:	n/a	n/a
45	CEBPD	chr9:136858491-136858779	HepG2	liver:	n/a	n/a
46	CHD1	chr9:136854949-136855189	GM12878	blood:	n/a	n/a
47	CHD1	chr9:136857138-136857719	GM12878	blood:	n/a	n/a
48	CHD1	chr9:136859517-136859839	GM12878	blood:	n/a	n/a
49	CHD1	chr9:136858037-136858270	GM12878	blood:	n/a	n/a
50	CHD1	chr9:136856298-136856917	GM12878	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136858308-136858358	HIPEpiC	eye:	n/a
2	chr9:136858308-136858358	HIPEpiC	eye:	n/a
3	chr9:136856352-136856402	HL-60	blood:	n/a
4	chr9:136857190-136857240	NHDF-neo	bronchial:	n/a
5	chr9:136858163-136858213	HL-60	blood:	n/a
6	chr9:136858673-136858723	PANC-1	pancreas:	n/a
7	chr9:136860187-136860237	T-47D	breast:	n/a
8	chr9:136858680-136858730	AG10803	skin:	n/a
9	chr9:136855902-136855952	NHDF-neo	bronchial:	n/a
10	chr9:136858163-136858213	ProgFib	skin:	n/a
11	chr9:136856435-136856485	Hela-S3	cervix:	n/a
12	chr9:136858680-136858730	AoSMC	blood vessel:	n/a
13	chr9:136873539-136873589	HRPEpiC	eye:	n/a
14	chr9:136857244-136857294	NHBE	bronchial:	n/a
15	chr9:136845816-136845866	GM12891	blood:	n/a
16	chr9:136858163-136858213	H1-hESC	embryonic stem cell:	embryo
17	chr9:136845816-136845866	HCF	heart:	n/a
18	chr9:136861819-136861869	HepG2	liver:	n/a
19	chr9:136857190-136857240	MCF10A-Er-Src	breast:	n/a
20	chr9:136858163-136858213	SK-N-MC	brain:	n/a
21	chr9:136869371-136869421	MCF-7	breast:	n/a
22	chr9:136856435-136856485	GM12891	blood:	n/a
23	chr9:136858673-136858723	T-47D	breast:	n/a
24	chr9:136858163-136858213	HEEpiC	esophagus:	n/a
25	chr9:136856435-136856485	ovcar-3	ovarian:	n/a
26	chr9:136856435-136856485	T-47D	breast:	n/a
27	chr9:136855902-136855952	GM12878	blood:	n/a
28	chr9:136873539-136873589	ProgFib	skin:	n/a
29	chr9:136858673-136858723	Hepatocyte	liver:	n/a
30	chr9:136857190-136857240	Hela-S3	cervix:	n/a
31	chr9:136856352-136856402	GM12878	blood:	n/a
32	chr9:136857244-136857294	HUVEC	blood vessel:	n/a
33	chr9:136857190-136857240	IMR90	lung:	fetal
34	chr9:136869371-136869421	HCT-116	colon:	n/a
35	chr9:136869371-136869421	HAEpiC	amniotic membrane:	n/a
36	chr9:136857190-136857240	HIPEpiC	eye:	n/a
37	chr9:136857244-136857294	HRCEpiC	kidney:	n/a
38	chr9:136873539-136873589	SKMC	muscle:	n/a
39	chr9:136856352-136856402	H1-hESC	embryonic stem cell:	embryo
40	chr9:136855902-136855952	SK-N-MC	brain:	n/a
41	chr9:136858163-136858213	AG04449	skin:	fetal
42	chr9:136858308-136858358	HRCEpiC	kidney:	n/a
43	chr9:136861819-136861869	NB4	blood:	n/a
44	chr9:136856435-136856485	NHDF-neo	bronchial:	n/a
45	chr9:136860187-136860237	ProgFib	skin:	n/a
46	chr9:136858308-136858358	U87	brain:	n/a
47	chr9:136855902-136855952	BJ	skin:	n/a
48	chr9:136855902-136855952	HAEpiC	amniotic membrane:	n/a
49	chr9:136856435-136856485	H1-hESC	embryonic stem cell:	embryo
50	chr9:136857244-136857294	PFSK-1	brain:	n/a

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:58677435..58680394-chr9:136857896..136860386,2	MCF-7	breast:
2	chr17:41465782..41466571-chr9:136857818..136858531,2	Hela-S3	cervix:
3	chr9:136870803..136872664-chr9:136932233..136934432,2	MCF-7	breast:
4	chr9:136844757..136847399-chr9:136850001..136852495,3	MCF-7	breast:
5	chr9:136858694..136861040-chr9:136863202..136865256,2	MCF-7	breast:
6	chr9:136827453..136828973-chr9:136850064..136852455,2	MCF-7	breast:
7	chr9:136647156..136647722-chr9:136857760..136858312,2	MCF-7	breast:
8	chr9:136657461..136661655-chr9:136857893..136859866,4	K562	blood:
9	chr9:136857193..136859735-chr9:136888278..136891342,4	MCF-7	breast:
10	chr9:136625089..136627399-chr9:136858004..136860328,2	MCF-7	breast:
11	chr9:136679694..136681677-chr9:136851207..136853977,2	MCF-7	breast:
12	chr9:136855194..136860597-chr9:136929703..136933650,7	MCF-7	breast:
13	chr9:136608029..136608531-chr9:136858192..136859169,2	MCF-7	breast:
14	chr9:136802379..136804423-chr9:136852709..136855178,2	MCF-7	breast:
15	chr9:136600335..136600989-chr9:136859268..136860138,2	MCF-7	breast:
16	chr9:136706030..136708990-chr9:136860281..136862454,2	MCF-7	breast:
17	chr9:136655644..136657543-chr9:136859054..136861724,2	K562	blood:
18	chr9:136857648..136860079-chr9:136868960..136870875,2	MCF-7	breast:
19	chr9:136849949..136852879-chr9:136857069..136859221,2	K562	blood:
20	chr1:16678857..16679483-chr9:136857773..136858655,2	Hela-S3	cervix:
21	chr9:136738035..136740400-chr9:136850110..136852807,2	MCF-7	breast:
22	chr9:136657344..136658870-chr9:136843564..136845093,2	K562	blood:
23	chr9:136217971..136219533-chr9:136857799..136859450,2	MCF-7	breast:
24	chr9:136868478..136870718-chr9:136870776..136873148,2	K562	blood:
25	chr9:136824147..136826582-chr9:136846037..136848091,2	MCF-7	breast:
26	chr9:136858694..136861040-chr9:136863202..136865256,2	MCF-7	breast:
27	chr9:136844757..136847399-chr9:136850001..136852495,3	MCF-7	breast:
28	chr9:136815020..136816601-chr9:136860068..136862429,2	MCF-7	breast:
29	chr9:136868478..136870718-chr9:136870776..136873148,2	K562	blood:
30	chr17:7387387..7388059-chr9:136856964..136857786,2	Hela-S3	cervix:
31	chr17:56084236..56085114-chr9:136858119..136858641,2	Hela-S3	cervix:
32	chr9:136657511..136659120-chr9:136859180..136860603,16	MCF-7	breast:
33	chr9:136859325..136860777-chr9:136964002..136965283,7	MCF-7	breast:
34	chr9:136747429..136748291-chr9:136859497..136860075,2	MCF-7	breast:
35	chr9:136657888..136659088-chr9:136857891..136858693,4	MCF-7	breast:
36	chr20:48329316..48329843-chr9:136855861..136856467,2	Hela-S3	cervix:
37	chr9:136819042..136820561-chr9:136859120..136860817,2	MCF-7	breast:
38	chr9:136655962..136656512-chr9:136858875..136859685,2	K562	blood:
39	chr9:136594711..136597550-chr9:136858767..136860355,2	MCF-7	breast:
40	chr9:136600362..136604558-chr9:136857405..136860234,5	MCF-7	breast:
41	chr9:136866726..136869330-chr9:136873056..136875890,3	MCF-7	breast:
42	chr9:136647409..136647939-chr9:136859642..136860182,3	K562	blood:
43	chr9:136667141..136668984-chr9:136855421..136857150,2	MCF-7	breast:
44	chr9:136656846..136660173-chr9:136849456..136851758,3	MCF-7	breast:
45	chr9:136840954..136843930-chr9:136846251..136850265,3	K562	blood:
46	chr9:136835959..136838306-chr9:136857880..136859486,2	MCF-7	breast:
47	chr22:43010797..43011769-chr9:136856743..136857657,2	Hela-S3	cervix:
48	chr9:136746415..136748463-chr9:136851208..136853267,2	MCF-7	breast:
49	chr7:26239812..26240720-chr9:136846541..136847167,2	Hela-S3	cervix:
50	chr9:136592463..136593107-chr9:136859236..136860141,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR5-7	chr9:136857728-136861324	NONHSAT135347

No data

Variant related genes	Relation type
VAV2	TF binding region
VAV2	CpG island
ENSG00000122566	chromatin interactions
ENSG00000037637	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000055070	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000123453	chromatin interactions
ENSG00000235106	chromatin interactions
ENSG00000169925	chromatin interactions
ENSG00000160293	chromatin interactions

Extended variants
information (count: 1331 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1331 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs435586	chr9:136844973-136844974	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528952208	chr9:136844991-136844992	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12337634	chr9:136845037-136845038	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565523012	chr9:136845127-136845128	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533006015	chr9:136845141-136845142	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565566396	chr9:136845151-136845152	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73662360	chr9:136845152-136845153	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112442979	chr9:136845193-136845194	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556288712	chr9:136845197-136845198	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185756476	chr9:136845198-136845199	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79783847	chr9:136845219-136845220	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561494967	chr9:136845224-136845225	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73662361	chr9:136845237-136845238	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs57274418	chr9:136845258-136845259	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147359854	chr9:136845307-136845308	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78407138	chr9:136845329-136845330	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs180917763	chr9:136845337-136845338	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10993882	chr9:136845339-136845340	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566473751	chr9:136845352-136845353	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369106307	chr9:136845353-136845354	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561337409	chr9:136845357-136845358	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58586473	chr9:136845387-136845388	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185797199	chr9:136845421-136845422	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190408302	chr9:136845469-136845470	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111628608	chr9:136845493-136845494	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559041995	chr9:136845511-136845512	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181271460	chr9:136845528-136845529	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186225358	chr9:136845564-136845565	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563549323	chr9:136845662-136845663	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377238408	chr9:136845669-136845670	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34912657	chr9:136845749-136845750	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190696676	chr9:136845833-136845834	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568514768	chr9:136845854-136845855	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549340337	chr9:136845883-136845884	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183316042	chr9:136845893-136845894	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs66904038	chr9:136845920-136845921	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554582137	chr9:136845995-136845996	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535880422	chr9:136846038-136846039	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547883161	chr9:136846044-136846045	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566057354	chr9:136846094-136846095	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28417338	chr9:136846095-136846096	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139479423	chr9:136846098-136846099	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs60109919	chr9:136846156-136846157	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537329090	chr9:136846176-136846177	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143384835	chr9:136846181-136846182	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112149076	chr9:136846184-136846185	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73662362	chr9:136846197-136846198	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2519132	chr9:136846206-136846207	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187404672	chr9:136846240-136846241	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113774526	chr9:136846248-136846249	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136835200-136848600	Enhancers	Fetal Intestine Large	intestine
2	chr9:136835400-136848800	Genic enhancers	Fetal Intestine Small	intestine
3	chr9:136835800-136854800	Weak transcription	A549	lung
4	chr9:136837400-136851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:136837400-136854800	Weak transcription	HMEC	breast
6	chr9:136837600-136845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:136837600-136845000	Weak transcription	Fetal Kidney	kidney
8	chr9:136837800-136850600	Weak transcription	NHEK	skin
9	chr9:136838000-136854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:136840000-136854800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:136840200-136845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:136840400-136854800	Weak transcription	Hela-S3	cervix
13	chr9:136840800-136852600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:136841600-136846000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr9:136842000-136847800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:136842000-136848800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:136842400-136847400	Enhancers	Lung	lung
18	chr9:136842600-136848600	Enhancers	Fetal Muscle Leg	muscle
19	chr9:136843000-136845800	Enhancers	Fetal Lung	lung
20	chr9:136843000-136846000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:136843000-136846200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr9:136843000-136846800	Enhancers	Spleen	Spleen
23	chr9:136843000-136848400	Enhancers	Fetal Brain Male	brain
24	chr9:136843200-136845800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:136843200-136846000	Flanking Active TSS	HepG2	liver
26	chr9:136843200-136848600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:136843400-136845600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:136843400-136846200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:136843600-136845400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:136843600-136845600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:136843800-136845200	Enhancers	Brain Hippocampus Middle	brain
32	chr9:136843800-136845400	Enhancers	Brain Substantia Nigra	brain
33	chr9:136843800-136845400	Enhancers	Fetal Heart	heart
34	chr9:136843800-136845400	Enhancers	Stomach Mucosa	stomach
35	chr9:136843800-136845800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:136843800-136845800	Enhancers	HSMMtube	muscle
37	chr9:136843800-136846000	Enhancers	Brain Cingulate Gyrus	brain
38	chr9:136843800-136848800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:136844000-136845200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:136844000-136845200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr9:136844000-136845400	Enhancers	Gastric	stomach
42	chr9:136844000-136845600	Enhancers	NHDF-Ad	bronchial
43	chr9:136844000-136845800	Enhancers	Esophagus	oesophagus
44	chr9:136844000-136845800	Enhancers	Ovary	ovary
45	chr9:136844000-136846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:136844000-136848600	Enhancers	Primary B cells from cord blood	blood
47	chr9:136844200-136845000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:136844200-136845000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr9:136844200-136845000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr9:136844200-136845000	Flanking Active TSS	NHLF	lung

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