Variant report

Variant	nsv829694
Chromosome Location	chr3:119011488-119153579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2793)
CpG islands
(count:2382)
Chromatin interactive
region (count:95)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2793 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:119071868-119072286	K562	blood:	n/a	n/a
2	ARID3A	chr3:119147868-119147976	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:119144709-119144821	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:119039618-119039745	K562	blood:	n/a	n/a
5	ARID3A	chr3:119137002-119137677	K562	blood:	n/a	n/a
6	ATF1	chr3:119137008-119137732	K562	blood:	n/a	n/a
7	ATF1	chr3:119084288-119084589	K562	blood:	n/a	n/a
8	ATF1	chr3:119030478-119030838	K562	blood:	n/a	n/a
9	ATF1	chr3:119071899-119072433	K562	blood:	n/a	n/a
10	ATF1	chr3:119071040-119071337	K562	blood:	n/a	n/a
11	ATF1	chr3:119062786-119062938	K562	blood:	n/a	n/a
12	ATF2	chr3:119068853-119069588	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr3:119012574-119013632	GM12878	blood:	n/a	n/a
14	ATF2	chr3:119013724-119014259	GM12878	blood:	n/a	n/a
15	ATF2	chr3:119051303-119051778	GM12878	blood:	n/a	n/a
16	ATF2	chr3:119041770-119042555	GM12878	blood:	n/a	n/a
17	ATF2	chr3:119114413-119115404	GM12878	blood:	n/a	n/a
18	ATF2	chr3:119068870-119069534	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr3:119114523-119115484	GM12878	blood:	n/a	n/a
20	ATF2	chr3:119070948-119071651	GM12878	blood:	n/a	n/a
21	ATF2	chr3:119012648-119013519	GM12878	blood:	n/a	n/a
22	ATF2	chr3:119041645-119042605	GM12878	blood:	n/a	n/a
23	ATF2	chr3:119070933-119071568	GM12878	blood:	n/a	n/a
24	ATF2	chr3:119068262-119068685	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr3:119041087-119041616	GM12878	blood:	n/a	n/a
26	ATF2	chr3:119068114-119068631	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr3:119119875-119120362	GM12878	blood:	n/a	n/a
28	ATF3	chr3:119041927-119042234	K562	blood:	n/a	chr3:119042024-119042033
29	ATF3	chr3:119041785-119042148	K562	blood:	n/a	chr3:119042024-119042033 chr3:119041797-119041806
30	ATF3	chr3:119072059-119072357	K562	blood:	n/a	n/a
31	BACH1	chr3:119013764-119013963	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr3:119041883-119042422	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr3:119041256-119041538	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr3:119012816-119013016	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr3:119052458-119052635	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr3:119012870-119013160	GM12878	blood:	n/a	n/a
37	BATF	chr3:119114629-119115159	GM12878	blood:	n/a	n/a
38	BATF	chr3:119114660-119115219	GM12878	blood:	n/a	n/a
39	BATF	chr3:119041884-119042132	GM12878	blood:	n/a	n/a
40	BATF	chr3:119071148-119071411	GM12878	blood:	n/a	chr3:119071271-119071282
41	BATF	chr3:119041812-119042258	GM12878	blood:	n/a	n/a
42	BATF	chr3:119021570-119021823	GM12878	blood:	n/a	n/a
43	BATF	chr3:119071018-119071481	GM12878	blood:	n/a	chr3:119071271-119071282
44	BCL11A	chr3:119071090-119071482	GM12878	blood:	n/a	chr3:119071337-119071346
45	BCL11A	chr3:119114831-119115185	GM12878	blood:	n/a	n/a
46	BCL11A	chr3:119041818-119042194	GM12878	blood:	n/a	chr3:119042026-119042039 chr3:119041894-119041903 chr3:119042033-119042046 chr3:119042080-119042093
47	BCL11A	chr3:119041737-119042265	GM12878	blood:	n/a	chr3:119041796-119041805 chr3:119042026-119042039 chr3:119041894-119041903 chr3:119042033-119042046 chr3:119042080-119042093
48	BCL11A	chr3:119069045-119069250	H1-hESC	embryonic stem cell:	n/a	chr3:119069160-119069169 chr3:119069205-119069212
49	BCL11A	chr3:119068268-119068587	H1-hESC	embryonic stem cell:	n/a	n/a
50	BCL11A	chr3:119068321-119068512	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2382 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:119137289-119137339	ProgFib	skin:	n/a
2	chr3:119041385-119041435	HMEC	breast:	n/a
3	chr3:119065177-119065227	HEEpiC	esophagus:	n/a
4	chr3:119137289-119137339	ProgFib	skin:	n/a
5	chr3:119041385-119041435	HMEC	breast:	n/a
6	chr3:119065177-119065227	HEEpiC	esophagus:	n/a
7	chr3:119119690-119119740	HRCEpiC	kidney:	n/a
8	chr3:119038549-119038599	HCM	heart:	n/a
9	chr3:119013442-119013492	GM06990	blood:	n/a
10	chr3:119119690-119119740	HCPEpiC	choroid plexus:	n/a
11	chr3:119123115-119123165	IMR90	lung:	fetal
12	chr3:119041385-119041435	A549	lung:	n/a
13	chr3:119123115-119123165	NH-A	brain:	n/a
14	chr3:119098873-119098923	Jurkat	blood:	n/a
15	chr3:119121088-119121138	PrEC	prostate:	n/a
16	chr3:119013497-119013547	Jurkat	blood:	n/a
17	chr3:119114849-119114899	HCPEpiC	choroid plexus:	n/a
18	chr3:119013723-119013773	PFSK-1	brain:	n/a
19	chr3:119121088-119121138	MCF10A-Er-Src	breast:	n/a
20	chr3:119017682-119017732	SK-N-SH_RA	brain:	n/a
21	chr3:119011925-119011975	GM19239	blood:	n/a
22	chr3:119013497-119013547	HIPEpiC	eye:	n/a
23	chr3:119030023-119030073	GM06990	blood:	n/a
24	chr3:119041385-119041435	NT2-D1	testis:	n/a
25	chr3:119119690-119119740	PFSK-1	brain:	n/a
26	chr3:119120865-119120915	HCT-116	colon:	n/a
27	chr3:119013442-119013492	MCF-7	breast:	n/a
28	chr3:119150634-119150684	AG04450	lung:	fetal
29	chr3:119118715-119118765	T-47D	breast:	n/a
30	chr3:119123115-119123165	HEEpiC	esophagus:	n/a
31	chr3:119065177-119065227	HPAEpiC	pulmonary alveolar:	n/a
32	chr3:119012721-119012771	MCF-7	breast:	n/a
33	chr3:119070599-119070649	HL-60	blood:	n/a
34	chr3:119011925-119011975	SKMC	muscle:	n/a
35	chr3:119120865-119120915	IMR90	lung:	fetal
36	chr3:119022492-119022542	MCF10A-Er-Src	breast:	n/a
37	chr3:119070599-119070649	HRCEpiC	kidney:	n/a
38	chr3:119041385-119041435	AG09319	gingival:	n/a
39	chr3:119118715-119118765	RPTEC	kidney:	n/a
40	chr3:119030023-119030073	PANC-1	pancreas:	n/a
41	chr3:119041383-119041433	PANC-1	pancreas:	n/a
42	chr3:119079038-119079088	IMR90	lung:	fetal
43	chr3:119041383-119041433	T-47D	breast:	n/a
44	chr3:119137289-119137339	HMEC	breast:	n/a
45	chr3:119044523-119044573	HMEC	breast:	n/a
46	chr3:119012749-119012799	GM06990	blood:	n/a
47	chr3:119041955-119042005	HRCEpiC	kidney:	n/a
48	chr3:119079038-119079088	HRPEpiC	eye:	n/a
49	chr3:119150634-119150684	ovcar-3	ovarian:	n/a
50	chr3:119049717-119049767	GM12891	blood:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:118993504..118994563-chr3:119066421..119067384,3	MCF-7	breast:
2	chr20:32886187..32888712-chr3:119104098..119107101,3	MCF-7	breast:
3	chr3:119011699..119014378-chr3:119015999..119019083,3	MCF-7	breast:
4	chr3:119116494..119120285-chr3:119122032..119124928,4	K562	blood:
5	chr3:119041710..119043371-chr3:119051543..119054199,2	K562	blood:
6	chr3:119040625..119043456-chr3:119181021..119182647,3	MCF-7	breast:
7	chr3:119093926..119095844-chr3:119097410..119099412,2	K562	blood:
8	chr3:119145344..119146916-chr3:119149020..119151478,2	MCF-7	breast:
9	chr3:119081179..119083541-chr3:119084564..119086867,2	MCF-7	breast:
10	chr3:119032938..119036654-chr3:119043766..119046984,5	MCF-7	breast:
11	chr3:119040533..119045560-chr3:119045561..119050872,12	K562	blood:
12	chr3:119016211..119028042-chr3:119037960..119043695,12	MCF-7	breast:
13	chr3:119126605..119128685-chr3:119132241..119134737,2	K562	blood:
14	chr3:119012312..119014941-chr3:119040203..119043471,4	MCF-7	breast:
15	chr3:119133389..119135165-chr3:119214613..119217502,2	K562	blood:
16	chr3:119138626..119139712-chr3:119399725..119401267,5	MCF-7	breast:
17	chr3:119137043..119139802-chr3:119141104..119143797,2	K562	blood:
18	chr3:118603264..118603953-chr3:119107511..119108351,3	K562	blood:
19	chr3:119045537..119049626-chr3:119052248..119055183,4	MCF-7	breast:
20	chr3:119137043..119139802-chr3:119141104..119143797,2	K562	blood:
21	chr3:119041827..119043883-chr3:119053640..119055675,2	MCF-7	breast:
22	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:
23	chr3:119111246..119112838-chr3:119114237..119115875,2	K562	blood:
24	chr3:119139525..119141097-chr3:119150989..119153338,2	K562	blood:
25	chr3:119009764..119012007-chr3:119036606..119039583,2	MCF-7	breast:
26	chr3:119099268..119099865-chr3:119278264..119278821,2	MCF-7	breast:
27	chr3:119040997..119045560-chr3:119046722..119050872,5	K562	blood:
28	chr3:119034010..119039174-chr3:119039543..119045383,10	K562	blood:
29	chr3:119081179..119083541-chr3:119084564..119086867,2	MCF-7	breast:
30	chr3:119012312..119014941-chr3:119040203..119043471,4	MCF-7	breast:
31	chr3:119101955..119103666-chr3:119181677..119183349,2	MCF-7	breast:
32	chr3:119011662..119015799-chr3:119040784..119043293,4	MCF-7	breast:
33	chr3:119137603..119139843-chr3:119394787..119396303,2	MCF-7	breast:
34	chr3:119134373..119135878-chr3:119140849..119143747,2	K562	blood:
35	chr3:119134373..119135878-chr3:119140849..119143747,2	K562	blood:
36	chr3:119040520..119043561-chr3:119060040..119062334,3	MCF-7	breast:
37	chr3:118864911..118866856-chr3:119014676..119016254,2	MCF-7	breast:
38	chr3:119009764..119012007-chr3:119036606..119039583,2	MCF-7	breast:
39	chr3:119040293..119043055-chr3:119065307..119067902,3	MCF-7	breast:
40	chr3:119145344..119146916-chr3:119149020..119151478,2	MCF-7	breast:
41	chr3:119041195..119042834-chr3:119061856..119064792,2	MCF-7	breast:
42	chr3:119039655..119042714-chr3:119058706..119061390,3	MCF-7	breast:
43	chr3:119097016..119099473-chr3:119108077..119109846,2	MCF-7	breast:
44	chr3:119132282..119134747-chr3:119135512..119137174,2	MCF-7	breast:
45	chr3:119013595..119015497-chr3:119024900..119028569,3	MCF-7	breast:
46	chr3:118994969..118996823-chr3:119062476..119065328,2	MCF-7	breast:
47	chr3:119041366..119045154-chr3:119046425..119049987,5	MCF-7	breast:
48	chr15:101817168..101817800-chr3:119041367..119041890,2	NB4	blood:
49	chr3:119119325..119121330-chr3:119125075..119127881,2	K562	blood:
50	chr3:119040520..119043561-chr3:119060040..119062334,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B4GALT4-1	chr3:119041461-119041607	ENSG00000241155.1
2	lnc-B4GALT4-1	chr3:119033140-119033616	ENSG00000241155.1
3	lnc-ARHGAP31-2	chr3:119147387-119149420	NONHSAT091384

No data

Variant related genes	Relation type
RNU6-1127P	TF binding region
ARHGAP31	TF binding region
ARHGAP31-AS1	TF binding region
RPS26P21	TF binding region
RNU6-1127P	CpG island
ARHGAP31	CpG island
ARHGAP31-AS1	CpG island
RPS26P21	CpG island
ENSG00000031081	chromatin interactions
ENSG00000207310	chromatin interactions
ENSG00000272662	chromatin interactions
ENSG00000251012	chromatin interactions
ENSG00000121594	chromatin interactions
ENSG00000163424	chromatin interactions
ENSG00000113845	chromatin interactions
ENSG00000138495	chromatin interactions
ENSG00000176142	chromatin interactions
ENSG00000121578	chromatin interactions
ENSG00000241155	chromatin interactions
ENSG00000144847	chromatin interactions
ENSG00000131871	chromatin interactions
ENSG00000242829	chromatin interactions

Extended variants
information (count: 5333 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:5333 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567770128	chr3:119011526-119011527	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs375956299	chr3:119011542-119011543	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs535068060	chr3:119011571-119011572	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576320853	chr3:119011629-119011630	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546824436	chr3:119011636-119011637	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571300355	chr3:119011646-119011647	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370136942	chr3:119011675-119011676	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76294918	chr3:119011744-119011745	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs60682494	chr3:119011799-119011800	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575171664	chr3:119011828-119011829	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs536158286	chr3:119011849-119011850	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs554709765	chr3:119011867-119011868	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs146090822	chr3:119011901-119011902	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs386665102	chr3:119011932-119011933	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs77928193	chr3:119011933-119011934	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs576885266	chr3:119012067-119012068	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113937545	chr3:119012069-119012070	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562483606	chr3:119012103-119012104	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs531186942	chr3:119012115-119012116	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs549412762	chr3:119012132-119012133	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561527579	chr3:119012178-119012179	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs140045246	chr3:119012263-119012264	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs201167835	chr3:119012266-119012267	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs114716945	chr3:119012300-119012301	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs532493796	chr3:119012328-119012329	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs550526497	chr3:119012439-119012440	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs575385727	chr3:119012493-119012494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs141224175	chr3:119012550-119012551	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs141406283	chr3:119012557-119012558	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs540344522	chr3:119012647-119012648	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs554615051	chr3:119012654-119012655	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs566641852	chr3:119012658-119012659	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs533774511	chr3:119012663-119012664	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs115388877	chr3:119012732-119012733	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs114357926	chr3:119012734-119012735	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs186138973	chr3:119012792-119012793	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs150597087	chr3:119012805-119012806	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs569407345	chr3:119012821-119012822	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs574529960	chr3:119012850-119012851	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs543295464	chr3:119012902-119012903	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs561462014	chr3:119012912-119012913	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs528666016	chr3:119012934-119012935	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs540446137	chr3:119012967-119012968	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs529117814	chr3:119013024-119013025	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs565154963	chr3:119013075-119013076	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs532429365	chr3:119013089-119013090	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs550665131	chr3:119013315-119013316	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370285459	chr3:119013316-119013317	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs190459021	chr3:119013318-119013319	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs530081719	chr3:119013328-119013329	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4774 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119007800-119012400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119008600-119011800	Weak transcription	Placenta	Placenta
3	chr3:119008800-119011600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:119008800-119012000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:119008800-119012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:119008800-119012600	Weak transcription	Esophagus	oesophagus
7	chr3:119008800-119012800	Weak transcription	Spleen	Spleen
8	chr3:119009000-119011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:119009000-119012000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:119009400-119011600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:119009400-119011600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:119010200-119012200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:119010400-119012400	Weak transcription	Fetal Intestine Large	intestine
14	chr3:119011000-119011600	Enhancers	Primary T cells from cord blood	blood
15	chr3:119011000-119011600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:119011000-119011600	Enhancers	Fetal Heart	heart
17	chr3:119011000-119011800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:119011000-119012000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:119011000-119012000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr3:119011000-119012200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:119011000-119012200	Enhancers	Fetal Thymus	thymus
22	chr3:119011200-119011600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:119011200-119011800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr3:119011200-119011800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:119011200-119011800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr3:119011200-119011800	Enhancers	Thymus	Thymus
27	chr3:119011200-119011800	Bivalent Enhancer	Dnd41	blood
28	chr3:119011200-119011800	Enhancers	GM12878-XiMat	blood
29	chr3:119011200-119012000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr3:119011200-119012000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr3:119011200-119012000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:119011200-119012000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:119011200-119012200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr3:119011200-119012400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr3:119011200-119012400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr3:119011200-119012400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr3:119011200-119012400	Enhancers	Colon Smooth Muscle	Colon
38	chr3:119011400-119011600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr3:119011400-119011600	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr3:119011400-119011800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:119011400-119012000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:119011400-119012000	Enhancers	Lung	lung
43	chr3:119011400-119012200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:119011400-119012200	Enhancers	Adipose Nuclei	Adipose
45	chr3:119011400-119012200	Enhancers	Right Ventricle	heart
46	chr3:119011400-119012400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr3:119011400-119012400	Enhancers	Primary B cells from peripheral blood	blood
48	chr3:119011400-119012400	Enhancers	Brain Hippocampus Middle	brain
49	chr3:119011400-119012400	Enhancers	Fetal Lung	lung
50	chr3:119011400-119012400	Enhancers	Rectal Mucosa Donor 29	rectum

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