Variant report

Variant	nsv1006922
Chromosome Location	chr3:141822589-142078726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3133)
CpG islands
(count:1405)
Chromatin interactive
region (count:153)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:3133 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:142034735-142035065	K562	blood:	n/a	n/a
2	ARID3A	chr3:142034796-142035079	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:141845145-141845331	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:141944333-141944542	K562	blood:	n/a	n/a
5	ARID3A	chr3:141941528-141942036	K562	blood:	n/a	n/a
6	ARID3A	chr3:141944275-141944587	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:141868710-141868857	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:142004029-142004406	K562	blood:	n/a	n/a
9	ARID3A	chr3:141845072-141845387	K562	blood:	n/a	n/a
10	ARID3A	chr3:141848736-141848803	HepG2	liver:	n/a	n/a
11	ARID3A	chr3:141868086-141868286	HepG2	liver:	n/a	n/a
12	ARID3A	chr3:142037995-142038366	K562	blood:	n/a	n/a
13	ATF1	chr3:142026474-142026530	K562	blood:	n/a	n/a
14	ATF1	chr3:142034743-142035113	K562	blood:	n/a	n/a
15	ATF1	chr3:141944202-141944637	K562	blood:	n/a	n/a
16	ATF1	chr3:142038012-142038223	K562	blood:	n/a	n/a
17	ATF1	chr3:142004039-142004362	K562	blood:	n/a	n/a
18	ATF1	chr3:141994868-141995043	K562	blood:	n/a	n/a
19	ATF2	chr3:141944124-141944603	GM12878	blood:	n/a	n/a
20	ATF2	chr3:141944313-141944572	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr3:142034698-142035057	K562	blood:	n/a	n/a
22	ATF3	chr3:141944306-141944624	K562	blood:	n/a	chr3:141944456-141944466
23	BACH1	chr3:142037969-142038499	K562	blood:	n/a	n/a
24	BACH1	chr3:141867733-141868966	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr3:142037995-142038332	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr3:141944121-141944594	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr3:141988570-141988640	K562	blood:	n/a	n/a
28	BACH1	chr3:141909646-141909689	K562	blood:	n/a	n/a
29	BATF	chr3:142074556-142074897	GM12878	blood:	n/a	n/a
30	BATF	chr3:141975772-141975937	GM12878	blood:	n/a	n/a
31	BCLAF1	chr3:141998774-141999206	GM12878	blood:	n/a	n/a
32	BCLAF1	chr3:141998835-141999218	GM12878	blood:	n/a	n/a
33	BCLAF1	chr3:141944193-141944635	GM12878	blood:	n/a	n/a
34	BHLHE40	chr3:142066400-142066735	K562	blood:	n/a	n/a
35	BHLHE40	chr3:141943947-141944618	K562	blood:	n/a	chr3:141944033-141944049
36	BHLHE40	chr3:141998848-141999153	K562	blood:	n/a	n/a
37	BHLHE40	chr3:141944144-141944582	GM12878	blood:	n/a	n/a
38	BHLHE40	chr3:141944084-141944604	HepG2	liver:	n/a	n/a
39	BHLHE40	chr3:141998833-141999090	HepG2	liver:	n/a	n/a
40	BHLHE40	chr3:141998901-141999171	GM12878	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	BRCA1	chr3:141994588-141995155	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr3:141933218-141933348	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr3:141944283-141944600	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr3:141867873-141868061	HepG2	liver:	n/a	n/a
47	CBX3	chr3:141972050-141972272	K562	blood:	n/a	n/a
48	CBX3	chr3:142003802-142004433	K562	blood:	n/a	n/a
49	CBX3	chr3:141972002-141972303	K562	blood:	n/a	n/a
50	CBX3	chr3:141998807-141999224	K562	blood:	n/a	n/a

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141944344-141944394	AG09319	gingival:	n/a
2	chr3:141888226-141888276	HCT-116	colon:	n/a
3	chr3:141944344-141944394	AG09319	gingival:	n/a
4	chr3:141888226-141888276	HCT-116	colon:	n/a
5	chr3:141877942-141877992	HIPEpiC	eye:	n/a
6	chr3:141871386-141871436	MCF10A-Er-Src	breast:	n/a
7	chr3:141867994-141868044	Hepatocyte	liver:	n/a
8	chr3:141868612-141868662	K562	blood:	n/a
9	chr3:141868459-141868509	GM12892	blood:	n/a
10	chr3:141868997-141869047	T-47D	breast:	n/a
11	chr3:141928789-141928839	SK-N-SH_RA	brain:	n/a
12	chr3:141868997-141869047	BE2_C	brain:	n/a
13	chr3:141941279-141941329	HEK293	kidney:	embryo
14	chr3:141944300-141944350	HMEC	breast:	n/a
15	chr3:141945790-141945840	HPAEpiC	pulmonary alveolar:	n/a
16	chr3:141944516-141944566	AG09309	skin:	n/a
17	chr3:141928789-141928839	PANC-1	pancreas:	n/a
18	chr3:141995701-141995751	MCF-7	breast:	n/a
19	chr3:141944077-141944127	SK-N-MC	brain:	n/a
20	chr3:141868459-141868509	GM19239	blood:	n/a
21	chr3:141995701-141995751	AG09309	skin:	n/a
22	chr3:141944300-141944350	HCM	heart:	n/a
23	chr3:141871386-141871436	AG09309	skin:	n/a
24	chr3:141945703-141945753	HEK293	kidney:	embryo
25	chr3:142027066-142027116	MCF-7	breast:	n/a
26	chr3:141944620-141944670	Caco-2	colon:	n/a
27	chr3:141944344-141944394	NH-A	brain:	n/a
28	chr3:141944300-141944350	Hepatocyte	liver:	n/a
29	chr3:141944077-141944127	RPTEC	kidney:	n/a
30	chr3:141944077-141944127	AG04449	skin:	fetal
31	chr3:141928789-141928839	SK-N-MC	brain:	n/a
32	chr3:142027066-142027116	GM12892	blood:	n/a
33	chr3:141941279-141941329	H1-hESC	embryonic stem cell:	embryo
34	chr3:141945703-141945753	HRE	kidney:	n/a
35	chr3:141945790-141945840	GM19239	blood:	n/a
36	chr3:141868409-141868459	ECC-1	luminal epithelium:	n/a
37	chr3:141944077-141944127	HCM	heart:	n/a
38	chr3:141944519-141944569	HAEpiC	amniotic membrane:	n/a
39	chr3:141928789-141928839	GM12878	blood:	n/a
40	chr3:141944318-141944368	HIPEpiC	eye:	n/a
41	chr3:141944516-141944566	GM06990	blood:	n/a
42	chr3:141944344-141944394	NHDF-neo	bronchial:	n/a
43	chr3:141995701-141995751	SK-N-SH	brain:	n/a
44	chr3:141871386-141871436	HAEpiC	amniotic membrane:	n/a
45	chr3:141871386-141871436	HRCEpiC	kidney:	n/a
46	chr3:141867862-141867912	CMK	blood:	n/a
47	chr3:141868997-141869047	AG09319	gingival:	n/a
48	chr3:141944300-141944350	NH-A	brain:	n/a
49	chr3:141868612-141868662	ECC-1	luminal epithelium:	n/a
50	chr3:141944318-141944368	GM12891	blood:	n/a

(count:153 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:141869138..141873341-chr3:141874948..141878227,4	MCF-7	breast:
2	chr3:142028519..142033203-chr3:142033786..142039324,7	K562	blood:
3	chr3:141918309..141919900-chr3:141924207..141926926,2	MCF-7	breast:
4	chr3:141944032..141945017-chr8:143808717..143809376,2	Hela-S3	cervix:
5	chr3:141918898..141921887-chr3:141933656..141936243,2	K562	blood:
6	chr3:141816249..141818254-chr3:141826549..141828683,2	MCF-7	breast:
7	chr3:141746412..141748907-chr3:141928677..141931000,3	K562	blood:
8	chr3:141845395..141847742-chr3:141867833..141869425,2	MCF-7	breast:
9	chr3:141921447..141923041-chr3:141938532..141940338,2	K562	blood:
10	chr3:141844885..141845509-chr3:141998474..141999186,2	MCF-7	breast:
11	chr3:141939985..141942934-chr3:141962121..141964269,2	K562	blood:
12	chr3:141888823..141891624-chr3:141893774..141896590,3	K562	blood:
13	chr3:141919674..141922479-chr3:141924056..141926779,2	MCF-7	breast:
14	chr3:141942954..141945885-chr3:141988032..141991755,3	MCF-7	breast:
15	chr3:141918846..141920526-chr3:141922656..141925151,2	K562	blood:
16	chr3:142077588..142080075-chr3:142081701..142083765,2	K562	blood:
17	chr3:141933025..141940048-chr3:141942272..141945803,9	MCF-7	breast:
18	chr3:142048008..142050372-chr3:142051605..142054312,2	K562	blood:
19	chr3:142031696..142033287-chr3:142037661..142039925,2	MCF-7	breast:
20	chr3:141681127..141682067-chr3:141998956..141999598,2	MCF-7	breast:
21	chr17:80184285..80186683-chr3:141942385..141945027,2	MCF-7	breast:
22	chr3:142071094..142074933-chr3:142076608..142079513,3	MCF-7	breast:
23	chr3:141839697..141841748-chr3:141844157..141846456,2	K562	blood:
24	chr3:141872069..141873758-chr3:141878365..141880269,2	MCF-7	breast:
25	chr3:141930773..141933744-chr3:141940549..141942064,2	MCF-7	breast:
26	chr3:141918846..141920526-chr3:141922656..141925151,2	K562	blood:
27	chr3:141986894..141989145-chr3:141996424..141998046,2	K562	blood:
28	chr3:141898603..141901511-chr3:141942977..141947111,4	MCF-7	breast:
29	chr3:141863639..141867822-chr3:141868615..141873401,6	K562	blood:
30	chr3:141941960..141945693-chr3:142033521..142037066,3	K562	blood:
31	chr13:28032235..28033740-chr3:141906874..141908394,2	MCF-7	breast:
32	chr3:141880531..141882859-chr3:141943394..141945714,2	K562	blood:
33	chr3:141456676..141459122-chr3:141866884..141869547,2	MCF-7	breast:
34	chr3:142028519..142031113-chr3:142035238..142036947,2	K562	blood:
35	chr1:45284275..45285951-chr3:141939370..141941710,2	K562	blood:
36	chr3:142047932..142050372-chr3:142051605..142055072,3	K562	blood:
37	chr3:141831489..141833335-chr3:141922195..141926170,3	K562	blood:
38	chr3:141916087..141917951-chr3:141939342..141941586,2	K562	blood:
39	chr3:141899683..141900200-chr3:141998508..141999054,2	K562	blood:
40	chr3:23982130..23982921-chr3:141945206..141945893,2	MCF-7	breast:
41	chr3:141873069..141875142-chr3:141877650..141879337,2	K562	blood:
42	chr3:141927414..141929752-chr3:141932597..141934385,2	MCF-7	breast:
43	chr3:141943457..141944964-chr3:141968920..141970444,2	MCF-7	breast:
44	chr3:141866047..141867912-chr3:141873721..141875434,2	K562	blood:
45	chr3:141872069..141873758-chr3:141878365..141880269,2	MCF-7	breast:
46	chr3:141866424..141868170-chr3:141875148..141877149,2	MCF-7	breast:
47	chr3:141681241..141682037-chr3:141894141..141895360,3	MCF-7	breast:
48	chr3:142034226..142036473-chr3:142044742..142046537,2	K562	blood:
49	chr3:141932221..141937955-chr3:141938851..141945696,9	K562	blood:
50	chr19:13958223..13958787-chr3:141867467..141868136,2	Hela-S3	cervix:

(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:6 , 50 per page) page: 1

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

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
ENSG00000199753	chromatin interactions
ENSG00000114126	chromatin interactions
ENSG00000141526	chromatin interactions
ENSG00000228878	chromatin interactions
ENSG00000253806	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000175066	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000206604	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000122545	chromatin interactions
ENSG00000160183	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000114127	chromatin interactions
ENSG00000113387	chromatin interactions
ENSG00000162636	chromatin interactions
ENSG00000272565	chromatin interactions
ENSG00000175054	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000114125	chromatin interactions
ENSG00000130193	chromatin interactions

Extended variants
information (count: 8255 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:8255 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7426584	chr3:141822621-141822622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570265732	chr3:141822687-141822688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148668133	chr3:141822699-141822700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570145657	chr3:141822729-141822730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199939323	chr3:141822731-141822732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537788594	chr3:141822738-141822739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577129536	chr3:141822742-141822743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114419395	chr3:141822743-141822744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3898673	chr3:141822779-141822780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574003393	chr3:141822796-141822797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534670547	chr3:141822828-141822829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114403481	chr3:141822829-141822830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76980837	chr3:141822877-141822878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144443434	chr3:141822883-141822884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192713999	chr3:141822994-141822995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73233879	chr3:141823036-141823037	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543735395	chr3:141823042-141823043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73233880	chr3:141823087-141823088	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116553479	chr3:141823096-141823097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139383232	chr3:141823194-141823195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115312416	chr3:141823199-141823200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147427246	chr3:141823200-141823201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139809801	chr3:141823268-141823269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112692053	chr3:141823275-141823276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551489629	chr3:141823300-141823301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570262676	chr3:141823321-141823322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145348771	chr3:141823391-141823392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549672845	chr3:141823482-141823483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369119050	chr3:141823537-141823538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534705299	chr3:141823548-141823549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536229445	chr3:141823624-141823625	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552900578	chr3:141823625-141823626	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555047861	chr3:141823668-141823669	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12107150	chr3:141823766-141823767	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538789189	chr3:141823775-141823776	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs151038110	chr3:141823784-141823785	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576215068	chr3:141823796-141823797	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543227157	chr3:141823800-141823801	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532742549	chr3:141823852-141823853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140970044	chr3:141823928-141823929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371647062	chr3:141824129-141824130	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75312184	chr3:141824150-141824151	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554197177	chr3:141824157-141824158	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559429844	chr3:141824183-141824184	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554345661	chr3:141824213-141824214	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545113415	chr3:141824267-141824268	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563209671	chr3:141824277-141824278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147077873	chr3:141824295-141824296	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs397933732	chr3:141824300-141824301	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189138131	chr3:141824315-141824316	Enhancers Weak transcription	Chromatin interactive region	1 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
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:4801 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

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	chr3:141818200-141822600	Enhancers	Dnd41	blood
6	chr3:141818200-141830600	Weak transcription	Fetal Intestine Small	intestine
7	chr3:141818200-141835800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:141819200-141827000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:141819800-141824200	Weak transcription	Fetal Intestine Large	intestine
10	chr3:141821200-141827000	Weak transcription	Thymus	Thymus
11	chr3:141822200-141825400	Weak transcription	Fetal Thymus	thymus
12	chr3:141822600-141823600	Weak transcription	Dnd41	blood
13	chr3:141823600-141825400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:141823600-141832000	Enhancers	Dnd41	blood
15	chr3:141823800-141824400	Enhancers	HepG2	liver
16	chr3:141823800-141825800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:141824000-141826000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:141824200-141824400	Enhancers	Aorta	Aorta
19	chr3:141824200-141824400	Enhancers	Fetal Intestine Large	intestine
20	chr3:141824800-141826000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:141825000-141825800	Enhancers	NHDF-Ad	bronchial
22	chr3:141825400-141825800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:141825400-141826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:141825400-141826200	Enhancers	Fetal Brain Male	brain
25	chr3:141825400-141827000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:141825400-141831000	Enhancers	Fetal Thymus	thymus
27	chr3:141825600-141825800	Enhancers	Primary T cells from cord blood	blood
28	chr3:141825600-141825800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr3:141825600-141826000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:141825800-141826200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:141826200-141827000	Weak transcription	Fetal Brain Male	brain
32	chr3:141826800-141827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:141826800-141832400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:141827000-141827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:141827000-141827200	Enhancers	Fetal Brain Male	brain
36	chr3:141827000-141827800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:141827000-141827800	Enhancers	GM12878-XiMat	blood
38	chr3:141827000-141828600	Enhancers	Thymus	Thymus
39	chr3:141827800-141828000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:141827800-141834600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:141828200-141830800	Enhancers	Placenta	Placenta
42	chr3:141828600-141829000	Genic enhancers	Thymus	Thymus
43	chr3:141828800-141829600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:141829000-141835200	Weak transcription	Thymus	Thymus
45	chr3:141830400-141830800	Enhancers	HepG2	liver
46	chr3:141830600-141831000	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr3:141830800-141832200	Weak transcription	Placenta	Placenta
48	chr3:141830800-141835400	Weak transcription	HepG2	liver
49	chr3:141831000-141831600	Weak transcription	Fetal Thymus	thymus
50	chr3:141831200-141832200	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links