Variant report

Variant	nsv520523
Chromosome Location	chr3:141818850-142110818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3366)
CpG islands
(count:1406)
Chromatin interactive
region (count:162)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

(count:3366 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:141868086-141868286	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:142037995-142038366	K562	blood:	n/a	n/a
3	ARID3A	chr3:142034796-142035079	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:142082266-142082975	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:141944275-141944587	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:141868710-141868857	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:142034735-142035065	K562	blood:	n/a	n/a
8	ARID3A	chr3:141944333-141944542	K562	blood:	n/a	n/a
9	ARID3A	chr3:141818967-141818988	K562	blood:	n/a	n/a
10	ARID3A	chr3:141848736-141848803	HepG2	liver:	n/a	n/a
11	ARID3A	chr3:142004029-142004406	K562	blood:	n/a	n/a
12	ARID3A	chr3:142085359-142085586	K562	blood:	n/a	n/a
13	ARID3A	chr3:142085451-142085580	HepG2	liver:	n/a	n/a
14	ARID3A	chr3:141845072-141845387	K562	blood:	n/a	n/a
15	ARID3A	chr3:141941528-141942036	K562	blood:	n/a	n/a
16	ARID3A	chr3:141845145-141845331	HepG2	liver:	n/a	n/a
17	ATF1	chr3:141994868-141995043	K562	blood:	n/a	n/a
18	ATF1	chr3:142026474-142026530	K562	blood:	n/a	n/a
19	ATF1	chr3:141944202-141944637	K562	blood:	n/a	n/a
20	ATF1	chr3:142038012-142038223	K562	blood:	n/a	n/a
21	ATF1	chr3:142004039-142004362	K562	blood:	n/a	n/a
22	ATF1	chr3:142034743-142035113	K562	blood:	n/a	n/a
23	ATF2	chr3:141944313-141944572	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr3:141944124-141944603	GM12878	blood:	n/a	n/a
25	ATF3	chr3:141944306-141944624	K562	blood:	n/a	chr3:141944456-141944466
26	ATF3	chr3:142034698-142035057	K562	blood:	n/a	n/a
27	BACH1	chr3:142037995-142038332	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr3:141867733-141868966	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr3:141988570-141988640	K562	blood:	n/a	n/a
30	BACH1	chr3:141944121-141944594	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr3:141909646-141909689	K562	blood:	n/a	n/a
32	BACH1	chr3:142037969-142038499	K562	blood:	n/a	n/a
33	BATF	chr3:141975772-141975937	GM12878	blood:	n/a	n/a
34	BATF	chr3:142074556-142074897	GM12878	blood:	n/a	n/a
35	BCLAF1	chr3:141944193-141944635	GM12878	blood:	n/a	n/a
36	BCLAF1	chr3:141998835-141999218	GM12878	blood:	n/a	n/a
37	BCLAF1	chr3:141998774-141999206	GM12878	blood:	n/a	n/a
38	BHLHE40	chr3:142066400-142066735	K562	blood:	n/a	n/a
39	BHLHE40	chr3:141943947-141944618	K562	blood:	n/a	chr3:141944033-141944049
40	BHLHE40	chr3:141998848-141999153	K562	blood:	n/a	n/a
41	BHLHE40	chr3:141867704-141868571	HepG2	liver:	n/a	n/a
42	BHLHE40	chr3:141868133-141868604	GM12878	blood:	n/a	n/a
43	BHLHE40	chr3:141944144-141944582	GM12878	blood:	n/a	n/a
44	BHLHE40	chr3:141998833-141999090	HepG2	liver:	n/a	n/a
45	BHLHE40	chr3:141944084-141944604	HepG2	liver:	n/a	n/a
46	BHLHE40	chr3:141998901-141999171	GM12878	blood:	n/a	n/a
47	BRCA1	chr3:141933218-141933348	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr3:141867873-141868061	HepG2	liver:	n/a	n/a
49	BRCA1	chr3:141994588-141995155	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr3:141944283-141944600	Hela-S3	cervix:	n/a	n/a

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141871386-141871436	IMR90	lung:	fetal
2	chr3:141944344-141944394	HIPEpiC	eye:	n/a
3	chr3:141945703-141945753	CMK	blood:	n/a
4	chr3:141871386-141871436	IMR90	lung:	fetal
5	chr3:141944344-141944394	HIPEpiC	eye:	n/a
6	chr3:141945703-141945753	CMK	blood:	n/a
7	chr3:141944620-141944670	HL-60	blood:	n/a
8	chr3:141944077-141944127	NHDF-neo	bronchial:	n/a
9	chr3:141928789-141928839	HCT-116	colon:	n/a
10	chr3:141943895-141943945	IMR90	lung:	fetal
11	chr3:141868459-141868509	AG04449	skin:	fetal
12	chr3:141944519-141944569	SKMC	muscle:	n/a
13	chr3:141867862-141867912	HCT-116	colon:	n/a
14	chr3:141877942-141877992	HCPEpiC	choroid plexus:	n/a
15	chr3:141868997-141869047	SAEC	small airway:	n/a
16	chr3:141941279-141941329	PANC-1	pancreas:	n/a
17	chr3:141868459-141868509	PFSK-1	brain:	n/a
18	chr3:141944516-141944566	SKMC	muscle:	n/a
19	chr3:141944516-141944566	HUVEC	blood vessel:	n/a
20	chr3:141944516-141944566	GM12891	blood:	n/a
21	chr3:141877942-141877992	NHBE	bronchial:	n/a
22	chr3:141888226-141888276	GM19239	blood:	n/a
23	chr3:141868997-141869047	HEK293	kidney:	embryo
24	chr3:141867994-141868044	SAEC	small airway:	n/a
25	chr3:141867862-141867912	HRE	kidney:	n/a
26	chr3:141944300-141944350	NHBE	bronchial:	n/a
27	chr3:141871386-141871436	BE2_C	brain:	n/a
28	chr3:142027066-142027116	NHBE	bronchial:	n/a
29	chr3:141867862-141867912	AG10803	skin:	n/a
30	chr3:141945790-141945840	HEK293	kidney:	embryo
31	chr3:141868459-141868509	IMR90	lung:	fetal
32	chr3:141868612-141868662	NT2-D1	testis:	n/a
33	chr3:141868459-141868509	AG04450	lung:	fetal
34	chr3:141944620-141944670	AG10803	skin:	n/a
35	chr3:142027066-142027116	NH-A	brain:	n/a
36	chr3:141867862-141867912	NB4	blood:	n/a
37	chr3:141868997-141869047	ECC-1	luminal epithelium:	n/a
38	chr3:141944519-141944569	GM12892	blood:	n/a
39	chr3:141877942-141877992	BJ	skin:	n/a
40	chr3:141944519-141944569	HRCEpiC	kidney:	n/a
41	chr3:141995701-141995751	SK-N-SH	brain:	n/a
42	chr3:142027066-142027116	GM19239	blood:	n/a
43	chr3:141877942-141877992	HRCEpiC	kidney:	n/a
44	chr3:141995701-141995751	AG04450	lung:	fetal
45	chr3:141944344-141944394	HMEC	breast:	n/a
46	chr3:141868409-141868459	PANC-1	pancreas:	n/a
47	chr3:141944344-141944394	SK-N-MC	brain:	n/a
48	chr3:141928789-141928839	ovcar-3	ovarian:	n/a
49	chr3:141868997-141869047	MCF10A-Er-Src	breast:	n/a
50	chr3:141944516-141944566	SAEC	small airway:	n/a

(count:162 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:141865638..141868267-chr3:141942930..141945180,2	MCF-7	breast:
2	chr3:142031696..142033287-chr3:142037661..142039925,2	MCF-7	breast:
3	chr3:141924115..141926296-chr3:141927657..141929893,2	K562	blood:
4	chr3:141916087..141917951-chr3:141939342..141941586,2	K562	blood:
5	chr3:142031696..142033287-chr3:142037661..142039925,2	MCF-7	breast:
6	chr3:141928249..141931424-chr3:141932973..141936618,4	K562	blood:
7	chr3:141823415..141824933-chr3:141840146..141843021,2	MCF-7	breast:
8	chr3:141933025..141940048-chr3:141942272..141945803,9	MCF-7	breast:
9	chr3:142071094..142074933-chr3:142076608..142079513,3	MCF-7	breast:
10	chr3:141919047..141920973-chr3:141943572..141945964,2	MCF-7	breast:
11	chr3:141874750..141877739-chr3:141886968..141889204,2	K562	blood:
12	chr3:142077588..142080075-chr3:142081701..142083765,2	K562	blood:
13	chr3:141983516..141986399-chr3:141987635..141990028,2	MCF-7	breast:
14	chr3:141681241..141682037-chr3:141894141..141895360,3	MCF-7	breast:
15	chr3:141932221..141937955-chr3:141938851..141945696,9	K562	blood:
16	chr3:141916087..141917951-chr3:141939342..141941586,2	K562	blood:
17	chr3:141942954..141945885-chr3:141988032..141991755,3	MCF-7	breast:
18	chr3:141740878..141741732-chr3:141899625..141900228,2	MCF-7	breast:
19	chr3:141940937..141945863-chr3:141947298..141949257,5	K562	blood:
20	chr3:141898603..141901511-chr3:141942977..141947111,4	MCF-7	breast:
21	chr20:30192660..30193363-chr3:141943889..141944590,2	Hela-S3	cervix:
22	chr3:141866276..141868412-chr3:141942932..141945800,2	MCF-7	breast:
23	chr13:28032235..28033740-chr3:141906874..141908394,2	MCF-7	breast:
24	chr3:141862592..141866605-chr3:141869452..141871962,3	MCF-7	breast:
25	chr3:141866424..141868170-chr3:141875148..141877149,2	MCF-7	breast:
26	chr3:141899184..141899896-chr3:141998534..141999076,2	MCF-7	breast:
27	chr3:141944032..141945017-chr8:143808717..143809376,2	Hela-S3	cervix:
28	chr3:141831489..141833335-chr3:141922195..141926170,3	K562	blood:
29	chr3:142071094..142074933-chr3:142076608..142079513,3	MCF-7	breast:
30	chr3:141873069..141875142-chr3:141877650..141879337,2	K562	blood:
31	chr3:142048008..142050372-chr3:142051605..142054312,2	K562	blood:
32	chr3:141918846..141920526-chr3:141922656..141925151,2	K562	blood:
33	chr3:141940509..141943565-chr3:141944038..141945660,4	MCF-7	breast:
34	chr3:141866471..141869350-chr3:141942355..141944493,2	K562	blood:
35	chr3:141899184..141899896-chr3:141998534..141999076,2	MCF-7	breast:
36	chr3:141930773..141933744-chr3:141940549..141942064,2	MCF-7	breast:
37	chr3:141881359..141883204-chr3:141942762..141944894,2	K562	blood:
38	chr3:141986894..141989145-chr3:141996424..141998046,2	K562	blood:
39	chr3:141939241..141942550-chr3:141942923..141945578,4	MCF-7	breast:
40	chr3:141939985..141942934-chr3:141962121..141964269,2	K562	blood:
41	chr3:141943457..141944964-chr3:141968920..141970444,2	MCF-7	breast:
42	chr3:141866471..141869350-chr3:141942355..141944493,2	K562	blood:
43	chr3:142028519..142033203-chr3:142033786..142039324,7	K562	blood:
44	chr3:141986894..141989145-chr3:141996424..141998046,2	K562	blood:
45	chr3:142066835..142068380-chr3:142068524..142070586,2	K562	blood:
46	chr3:142064702..142067188-chr3:142070699..142072268,2	K562	blood:
47	chr3:141983516..141986399-chr3:141987635..141990028,2	MCF-7	breast:
48	chr3:141844885..141845509-chr3:141998474..141999186,2	MCF-7	breast:
49	chr3:141899683..141900200-chr3:141998508..141999054,2	K562	blood:
50	chr3:142061779..142063304-chr3:142065930..142068810,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TFDP2-7	chr3:141876369-141880820	ENSG00000272565.1

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	XRN1	hsa-miR-335-5p	chr3:142025482-142025506
2	XRN1	hsa-let-7b-5p	chr3:142030132-142030126
3	XRN1	hsa-miR-335-5p	chr3:142095217-142095241
4	XRN1	hsa-miR-10a-5p	chr3:142029586-142029608
5	XRN1	hsa-miR-10a-5p	chr3:142029592-142029585
6	GK5	hsa-miR-340-5p	chr3:141878164-141878157
7	GK5	hsa-miR-124-3p	chr3:141883855-141883849

Variant related genes	Relation type
TFDP2	TF binding region
GK5	TF binding region
XRN1	TF binding region
RNU6-425P	TF binding region
ENSG00000272565	TF binding region
TFDP2	CpG island
GK5	CpG island
XRN1	CpG island
RNU6-425P	CpG island
ENSG00000272565	CpG island
ENSG00000141526	chromatin interactions
ENSG00000228878	chromatin interactions
ENSG00000175054	chromatin interactions
ENSG00000122545	chromatin interactions
ENSG00000114127	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000206604	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000113387	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000162636	chromatin interactions
ENSG00000175066	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000130193	chromatin interactions
ENSG00000114126	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000114125	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000160183	chromatin interactions
ENSG00000272565	chromatin interactions
ENSG00000253806	chromatin interactions

Extended variants
information (count: 9585 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:9585 , 50 per page) page: 1 2 3 4 5 6 7 ... 192

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11705932	chr3:141818850-141818851	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576399015	chr3:141818876-141818877	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545269909	chr3:141818895-141818896	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188614676	chr3:141818972-141818973	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192682089	chr3:141819011-141819012	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571499746	chr3:141819013-141819014	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16852097	chr3:141819038-141819039	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74994065	chr3:141819062-141819063	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575417567	chr3:141819082-141819083	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141524613	chr3:141819084-141819085	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554222180	chr3:141819118-141819119	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184515996	chr3:141819122-141819123	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539980435	chr3:141819138-141819139	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186679803	chr3:141819152-141819153	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115693294	chr3:141819181-141819182	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572107129	chr3:141819196-141819197	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11706051	chr3:141819200-141819201	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577189463	chr3:141819215-141819216	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143225115	chr3:141819219-141819220	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11706152	chr3:141819301-141819302	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566266350	chr3:141819308-141819309	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533717712	chr3:141819331-141819332	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375966717	chr3:141819360-141819361	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191142987	chr3:141819369-141819370	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369236867	chr3:141819371-141819372	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552731619	chr3:141819372-141819373	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184971745	chr3:141819391-141819392	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562890639	chr3:141819403-141819404	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550465338	chr3:141819411-141819412	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569139807	chr3:141819423-141819424	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536200742	chr3:141819494-141819495	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554838900	chr3:141819503-141819504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189697633	chr3:141819573-141819574	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192880243	chr3:141819609-141819610	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558244516	chr3:141819625-141819626	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4683667	chr3:141819680-141819681	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576487825	chr3:141819782-141819783	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544404858	chr3:141819800-141819801	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370049101	chr3:141819818-141819819	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117716119	chr3:141819862-141819863	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542190363	chr3:141819896-141819897	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560814434	chr3:141819902-141819903	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4683668	chr3:141819925-141819926	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1705620	chr3:141819999-141820000	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1617802	chr3:141820005-141820006	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546186475	chr3:141820043-141820044	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185359185	chr3:141820050-141820051	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191532	chr3:141820064-141820065	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs238636	chr3:141820107-141820108	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182973	chr3:141820114-141820115	Weak transcription Genic enhancers Enhancers	n/a	n/a	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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:5719 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141761800-141819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:141763000-141820000	Weak transcription	Pancreas	Pancrea
3	chr3:141763000-141824200	Weak transcription	Aorta	Aorta
4	chr3:141764000-141825600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:141795400-141835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:141797600-141819600	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:141797600-141823600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:141804000-141819200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:141804000-141820800	Weak transcription	Left Ventricle	heart
10	chr3:141815400-141821000	Genic enhancers	Fetal Thymus	thymus
11	chr3:141817400-141819200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:141817400-141819200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:141817400-141819200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:141817400-141819800	Enhancers	K562	blood
15	chr3:141817800-141819600	Enhancers	Thymus	Thymus
16	chr3:141818200-141819000	Weak transcription	Fetal Intestine Large	intestine
17	chr3:141818200-141822600	Enhancers	Dnd41	blood
18	chr3:141818200-141830600	Weak transcription	Fetal Intestine Small	intestine
19	chr3:141818200-141835800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:141818400-141819000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:141818800-141819200	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:141818800-141819200	Enhancers	Brain Substantia Nigra	brain
23	chr3:141819000-141819200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:141819000-141819200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr3:141819000-141819800	Strong transcription	Fetal Intestine Large	intestine
26	chr3:141819200-141827000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:141819600-141819800	Enhancers	Fetal Muscle Leg	muscle
28	chr3:141819600-141820800	Weak transcription	Thymus	Thymus
29	chr3:141819800-141820000	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:141819800-141824200	Weak transcription	Fetal Intestine Large	intestine
31	chr3:141820800-141821200	Enhancers	Thymus	Thymus
32	chr3:141821000-141822200	Strong transcription	Fetal Thymus	thymus
33	chr3:141821200-141827000	Weak transcription	Thymus	Thymus
34	chr3:141822200-141825400	Weak transcription	Fetal Thymus	thymus
35	chr3:141822600-141823600	Weak transcription	Dnd41	blood
36	chr3:141823600-141825400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:141823600-141832000	Enhancers	Dnd41	blood
38	chr3:141823800-141824400	Enhancers	HepG2	liver
39	chr3:141823800-141825800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr3:141824000-141826000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:141824200-141824400	Enhancers	Aorta	Aorta
42	chr3:141824200-141824400	Enhancers	Fetal Intestine Large	intestine
43	chr3:141824800-141826000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:141825000-141825800	Enhancers	NHDF-Ad	bronchial
45	chr3:141825400-141825800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:141825400-141826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:141825400-141826200	Enhancers	Fetal Brain Male	brain
48	chr3:141825400-141827000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:141825400-141831000	Enhancers	Fetal Thymus	thymus
50	chr3:141825600-141825800	Enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links