Variant report

Variant	esv2763767
Chromosome Location	chr3:141820945-142101554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3353)
CpG islands
(count:1404)
Chromatin interactive
region (count:161)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

(count:3353 , 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	chr3:142085451-142085580	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:141944275-141944587	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:141868086-141868286	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:142085359-142085586	K562	blood:	n/a	n/a
5	ARID3A	chr3:141845145-141845331	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:142034735-142035065	K562	blood:	n/a	n/a
7	ARID3A	chr3:142037995-142038366	K562	blood:	n/a	n/a
8	ARID3A	chr3:142004029-142004406	K562	blood:	n/a	n/a
9	ARID3A	chr3:142082266-142082975	HepG2	liver:	n/a	n/a
10	ARID3A	chr3:141868710-141868857	HepG2	liver:	n/a	n/a
11	ARID3A	chr3:141848736-141848803	HepG2	liver:	n/a	n/a
12	ARID3A	chr3:141845072-141845387	K562	blood:	n/a	n/a
13	ARID3A	chr3:142034796-142035079	HepG2	liver:	n/a	n/a
14	ARID3A	chr3:141944333-141944542	K562	blood:	n/a	n/a
15	ARID3A	chr3:141941528-141942036	K562	blood:	n/a	n/a
16	ATF1	chr3:142004039-142004362	K562	blood:	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	chr3:142034743-142035113	K562	blood:	n/a	n/a
20	ATF1	chr3:142038012-142038223	K562	blood:	n/a	n/a
21	ATF1	chr3:141944202-141944637	K562	blood:	n/a	n/a
22	ATF2	chr3:141944124-141944603	GM12878	blood:	n/a	n/a
23	ATF2	chr3:141944313-141944572	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr3:142034698-142035057	K562	blood:	n/a	n/a
25	ATF3	chr3:141944306-141944624	K562	blood:	n/a	chr3:141944456-141944466
26	BACH1	chr3:141944121-141944594	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr3:141867733-141868966	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr3:141988570-141988640	K562	blood:	n/a	n/a
29	BACH1	chr3:142037995-142038332	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr3:141909646-141909689	K562	blood:	n/a	n/a
31	BACH1	chr3:142037969-142038499	K562	blood:	n/a	n/a
32	BATF	chr3:142074556-142074897	GM12878	blood:	n/a	n/a
33	BATF	chr3:141975772-141975937	GM12878	blood:	n/a	n/a
34	BCLAF1	chr3:141944193-141944635	GM12878	blood:	n/a	n/a
35	BCLAF1	chr3:141998774-141999206	GM12878	blood:	n/a	n/a
36	BCLAF1	chr3:141998835-141999218	GM12878	blood:	n/a	n/a
37	BHLHE40	chr3:142066400-142066735	K562	blood:	n/a	n/a
38	BHLHE40	chr3:141944144-141944582	GM12878	blood:	n/a	n/a
39	BHLHE40	chr3:141998833-141999090	HepG2	liver:	n/a	n/a
40	BHLHE40	chr3:141943947-141944618	K562	blood:	n/a	chr3:141944033-141944049
41	BHLHE40	chr3:141998848-141999153	K562	blood:	n/a	n/a
42	BHLHE40	chr3:141998901-141999171	GM12878	blood:	n/a	n/a
43	BHLHE40	chr3:141867704-141868571	HepG2	liver:	n/a	n/a
44	BHLHE40	chr3:141944084-141944604	HepG2	liver:	n/a	n/a
45	BHLHE40	chr3:141868133-141868604	GM12878	blood:	n/a	n/a
46	BRCA1	chr3:141933218-141933348	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr3:141867873-141868061	HepG2	liver:	n/a	n/a
48	BRCA1	chr3:141944283-141944600	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr3:141994588-141995155	Hela-S3	cervix:	n/a	n/a
50	CBX3	chr3:141943716-141945024	K562	blood:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141945703-141945753	HEEpiC	esophagus:	n/a
2	chr3:141945703-141945753	HEEpiC	esophagus:	n/a
3	chr3:141944620-141944670	HCPEpiC	choroid plexus:	n/a
4	chr3:141945703-141945753	AG09319	gingival:	n/a
5	chr3:141867994-141868044	SKMC	muscle:	n/a
6	chr3:141868459-141868509	HRCEpiC	kidney:	n/a
7	chr3:141945790-141945840	NH-A	brain:	n/a
8	chr3:141868997-141869047	CMK	blood:	n/a
9	chr3:141944318-141944368	NB4	blood:	n/a
10	chr3:141868409-141868459	SAEC	small airway:	n/a
11	chr3:141945703-141945753	HRPEpiC	eye:	n/a
12	chr3:141867862-141867912	PrEC	prostate:	n/a
13	chr3:141944519-141944569	AG09319	gingival:	n/a
14	chr3:141944318-141944368	SK-N-SH_RA	brain:	n/a
15	chr3:141945790-141945840	HUVEC	blood vessel:	n/a
16	chr3:141941279-141941329	NHDF-neo	bronchial:	n/a
17	chr3:141868612-141868662	K562	blood:	n/a
18	chr3:141868612-141868662	Hela-S3	cervix:	n/a
19	chr3:141868612-141868662	HUVEC	blood vessel:	n/a
20	chr3:141995701-141995751	GM12878	blood:	n/a
21	chr3:141868997-141869047	PFSK-1	brain:	n/a
22	chr3:141995701-141995751	RPTEC	kidney:	n/a
23	chr3:141945790-141945840	GM12878	blood:	n/a
24	chr3:141944318-141944368	HRCEpiC	kidney:	n/a
25	chr3:141867862-141867912	H1-hESC	embryonic stem cell:	embryo
26	chr3:141944519-141944569	HNPCEpiC	eye:	n/a
27	chr3:141945703-141945753	HepG2	liver:	n/a
28	chr3:141941279-141941329	HRPEpiC	eye:	n/a
29	chr3:141945703-141945753	GM12891	blood:	n/a
30	chr3:141871386-141871436	HCM	heart:	n/a
31	chr3:141945703-141945753	HUVEC	blood vessel:	n/a
32	chr3:141941279-141941329	BJ	skin:	n/a
33	chr3:141944077-141944127	T-47D	breast:	n/a
34	chr3:141867862-141867912	HPAEpiC	pulmonary alveolar:	n/a
35	chr3:141888226-141888276	HCF	heart:	n/a
36	chr3:141945703-141945753	NHBE	bronchial:	n/a
37	chr3:141944318-141944368	AG09309	skin:	n/a
38	chr3:141867994-141868044	AG10803	skin:	n/a
39	chr3:141868612-141868662	HepG2	liver:	n/a
40	chr3:141944300-141944350	CMK	blood:	n/a
41	chr3:141877942-141877992	AG04450	lung:	fetal
42	chr3:141888226-141888276	AoSMC	blood vessel:	n/a
43	chr3:141944077-141944127	GM12878	blood:	n/a
44	chr3:141868409-141868459	BJ	skin:	n/a
45	chr3:142027066-142027116	A549	lung:	n/a
46	chr3:141877942-141877992	SAEC	small airway:	n/a
47	chr3:141877942-141877992	AG09309	skin:	n/a
48	chr3:141943895-141943945	ovcar-3	ovarian:	n/a
49	chr3:141944516-141944566	HL-60	blood:	n/a
50	chr3:141868409-141868459	Caco-2	colon:	n/a

(count:161 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:141919625..141921887-chr3:141933849..141936243,2	K562	blood:
2	chr3:141880531..141882859-chr3:141943394..141945714,2	K562	blood:
3	chr3:141939241..141942550-chr3:141942923..141945578,4	MCF-7	breast:
4	chr3:142034226..142036473-chr3:142044742..142046537,2	K562	blood:
5	chr3:141943457..141944964-chr3:141968920..141970444,2	MCF-7	breast:
6	chr3:141866951..141869794-chr3:141871330..141873613,3	MCF-7	breast:
7	chr3:141944032..141945017-chr8:143808717..143809376,2	Hela-S3	cervix:
8	chr3:141921447..141923041-chr3:141938532..141940338,2	K562	blood:
9	chr3:141899184..141899896-chr3:141998534..141999076,2	MCF-7	breast:
10	chr3:142085810..142087706-chr3:142095793..142098136,2	K562	blood:
11	chr3:141866471..141869350-chr3:141942355..141944493,2	K562	blood:
12	chr3:141456676..141459122-chr3:141866884..141869547,2	MCF-7	breast:
13	chr3:141944534..141946087-chr3:141987477..141990045,2	MCF-7	breast:
14	chr3:141816249..141818254-chr3:141826549..141828683,2	MCF-7	breast:
15	chr3:141889851..141891624-chr3:141894627..141896590,2	K562	blood:
16	chr3:141835499..141837454-chr3:141839665..141841997,2	K562	blood:
17	chr3:141942352..141946050-chr3:141946407..141950976,4	MCF-7	breast:
18	chr3:141898603..141901511-chr3:141942977..141947111,4	MCF-7	breast:
19	chr3:141681127..141682067-chr3:141998956..141999598,2	MCF-7	breast:
20	chr3:142077588..142080075-chr3:142081701..142083765,2	K562	blood:
21	chr3:142042619..142044340-chr3:142047762..142050315,2	K562	blood:
22	chr3:141740842..141741377-chr3:141998535..141999516,2	K562	blood:
23	chr3:141865638..141868267-chr3:141942930..141945180,2	MCF-7	breast:
24	chr3:141816604..141818646-chr3:141821637..141823768,2	K562	blood:
25	chr3:141844475..141845747-chr3:141998357..141999102,5	K562	blood:
26	chr3:141944534..141946087-chr3:141987477..141990045,2	MCF-7	breast:
27	chr3:141899683..141900200-chr3:141998508..141999054,2	K562	blood:
28	chr3:141918898..141921887-chr3:141933656..141936243,2	K562	blood:
29	chr19:13958223..13958787-chr3:141867467..141868136,2	Hela-S3	cervix:
30	chr3:141932221..141937955-chr3:141938851..141945696,9	K562	blood:
31	chr17:80184285..80186683-chr3:141942385..141945027,2	MCF-7	breast:
32	chr3:142047932..142050372-chr3:142051605..142055072,3	K562	blood:
33	chr3:141866471..141869350-chr3:141942355..141944493,2	K562	blood:
34	chr17:62222919..62223709-chr3:141944062..141944934,2	HCT-116	colon:
35	chr3:142071094..142074933-chr3:142076608..142079513,3	MCF-7	breast:
36	chr3:142026133..142029209-chr3:142034990..142037893,3	MCF-7	breast:
37	chr3:142026133..142029209-chr3:142034990..142037893,3	MCF-7	breast:
38	chr3:141998539..142000204-chr3:142002540..142004917,2	K562	blood:
39	chr3:141872069..141873758-chr3:141878365..141880269,2	MCF-7	breast:
40	chr3:141873069..141875142-chr3:141877650..141879337,2	K562	blood:
41	chr3:141918175..141919992-chr3:141942842..141946920,3	MCF-7	breast:
42	chr3:142090981..142093702-chr3:142096460..142098361,2	K562	blood:
43	chr3:142061779..142063304-chr3:142065930..142068810,2	K562	blood:
44	chr3:141941642..141944817-chr3:141944838..141947150,3	K562	blood:
45	chr3:141739542..141742444-chr3:142003603..142005533,2	K562	blood:
46	chr3:141934024..141935829-chr3:142296124..142298854,2	K562	blood:
47	chr3:141869138..141873341-chr3:141874948..141878227,4	MCF-7	breast:
48	chr3:141681155..141682217-chr3:141870930..141871455,3	MCF-7	breast:
49	chr3:142028519..142031113-chr3:142035238..142036947,2	K562	blood:
50	chr3:141899184..141899896-chr3:141998534..141999076,2	MCF-7	breast:

(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-10a-5p	chr3:142029586-142029608
2	XRN1	hsa-let-7b-5p	chr3:142030132-142030126
3	XRN1	hsa-miR-335-5p	chr3:142095217-142095241
4	XRN1	hsa-miR-335-5p	chr3:142025482-142025506
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
ENSG00000266402	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000160183	chromatin interactions
ENSG00000253806	chromatin interactions
ENSG00000141526	chromatin interactions
ENSG00000228878	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000206604	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000175066	chromatin interactions
ENSG00000114127	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000122545	chromatin interactions
ENSG00000272565	chromatin interactions
ENSG00000130193	chromatin interactions
ENSG00000114125	chromatin interactions
ENSG00000175054	chromatin interactions
ENSG00000162636	chromatin interactions
ENSG00000113387	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000114126	chromatin interactions

Extended variants
information (count: 9142 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:9142 , 50 per page) page: 1 2 3 4 5 6 7 ... 183

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556597776	chr3:141820947-141820948	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186029309	chr3:141821026-141821027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11916834	chr3:141821047-141821048	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376457745	chr3:141821104-141821105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142213235	chr3:141821132-141821133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538934275	chr3:141821144-141821145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558539194	chr3:141821189-141821190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534256306	chr3:141821222-141821223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4683669	chr3:141821227-141821228	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191354555	chr3:141821248-141821249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568111099	chr3:141821287-141821288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183256573	chr3:141821316-141821317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535683167	chr3:141821345-141821346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554362811	chr3:141821359-141821360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186762933	chr3:141821390-141821391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145906105	chr3:141821427-141821428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558474081	chr3:141821443-141821444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369609268	chr3:141821456-141821457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372602498	chr3:141821508-141821509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138492222	chr3:141821514-141821515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534501782	chr3:141821544-141821545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116282119	chr3:141821595-141821596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574031164	chr3:141821632-141821633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77219024	chr3:141821645-141821646	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62284562	chr3:141821665-141821666	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527465658	chr3:141821711-141821712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552078444	chr3:141821757-141821758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532631611	chr3:141821781-141821782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117332532	chr3:141821803-141821804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531222102	chr3:141821804-141821805	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141511413	chr3:141821809-141821810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111560530	chr3:141821821-141821822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs55838256	chr3:141821824-141821825	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563216509	chr3:141821849-141821850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535586222	chr3:141821855-141821856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562951711	chr3:141821876-141821877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55781914	chr3:141821903-141821904	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540017958	chr3:141821920-141821921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2862129	chr3:141821951-141821952	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373491205	chr3:141821973-141821974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377547611	chr3:141821993-141821994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565419033	chr3:141822029-141822030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576643077	chr3:141822037-141822038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183329677	chr3:141822038-141822039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113344455	chr3:141822047-141822048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573942213	chr3:141822106-141822107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541161387	chr3:141822107-141822108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187636851	chr3:141822117-141822118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547668577	chr3:141822172-141822173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148259085	chr3:141822173-141822174	Weak transcription Strong transcription 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:5396 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141763000-141824200	Weak transcription	Aorta	Aorta
2	chr3:141764000-141825600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:141795400-141835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:141797600-141823600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:141815400-141821000	Genic enhancers	Fetal Thymus	thymus
6	chr3:141818200-141822600	Enhancers	Dnd41	blood
7	chr3:141818200-141830600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:141818200-141835800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:141819200-141827000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:141819800-141824200	Weak transcription	Fetal Intestine Large	intestine
11	chr3:141820800-141821200	Enhancers	Thymus	Thymus
12	chr3:141821000-141822200	Strong transcription	Fetal Thymus	thymus
13	chr3:141821200-141827000	Weak transcription	Thymus	Thymus
14	chr3:141822200-141825400	Weak transcription	Fetal Thymus	thymus
15	chr3:141822600-141823600	Weak transcription	Dnd41	blood
16	chr3:141823600-141825400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:141823600-141832000	Enhancers	Dnd41	blood
18	chr3:141823800-141824400	Enhancers	HepG2	liver
19	chr3:141823800-141825800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:141824000-141826000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:141824200-141824400	Enhancers	Aorta	Aorta
22	chr3:141824200-141824400	Enhancers	Fetal Intestine Large	intestine
23	chr3:141824800-141826000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:141825000-141825800	Enhancers	NHDF-Ad	bronchial
25	chr3:141825400-141825800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:141825400-141826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:141825400-141826200	Enhancers	Fetal Brain Male	brain
28	chr3:141825400-141827000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:141825400-141831000	Enhancers	Fetal Thymus	thymus
30	chr3:141825600-141825800	Enhancers	Primary T cells from cord blood	blood
31	chr3:141825600-141825800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr3:141825600-141826000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:141825800-141826200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:141826200-141827000	Weak transcription	Fetal Brain Male	brain
35	chr3:141826800-141827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:141826800-141832400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr3:141827000-141827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:141827000-141827200	Enhancers	Fetal Brain Male	brain
39	chr3:141827000-141827800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:141827000-141827800	Enhancers	GM12878-XiMat	blood
41	chr3:141827000-141828600	Enhancers	Thymus	Thymus
42	chr3:141827800-141828000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:141827800-141834600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:141828200-141830800	Enhancers	Placenta	Placenta
45	chr3:141828600-141829000	Genic enhancers	Thymus	Thymus
46	chr3:141828800-141829600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:141829000-141835200	Weak transcription	Thymus	Thymus
48	chr3:141830400-141830800	Enhancers	HepG2	liver
49	chr3:141830600-141831000	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr3:141830800-141832200	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links