Variant report

Variant	esv2760232
Chromosome Location	chr12:31257695-31412669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1804)
CpG islands
(count:1099)
Chromatin interactive
region (count:31)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1804 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:31399086-31399282	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:31391820-31391981	K562	blood:	n/a	n/a
3	ATF1	chr12:31267437-31267611	K562	blood:	n/a	n/a
4	ATF1	chr12:31365662-31365782	K562	blood:	n/a	n/a
5	ATF2	chr12:31391648-31392128	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:31270089-31270375	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:31357817-31358350	GM12878	blood:	n/a	n/a
8	ATF2	chr12:31357881-31358323	GM12878	blood:	n/a	n/a
9	ATF2	chr12:31391675-31392058	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr12:31270094-31270475	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:31358978-31359188	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr12:31390681-31390963	GM12878	blood:	n/a	n/a
13	BATF	chr12:31345648-31345920	GM12878	blood:	n/a	n/a
14	BCL3	chr12:31357958-31358220	GM12878	blood:	n/a	chr12:31358098-31358107
15	BHLHE40	chr12:31333006-31333037	GM12878	blood:	n/a	n/a
16	BHLHE40	chr12:31390183-31390447	GM12878	blood:	n/a	n/a
17	BHLHE40	chr12:31270127-31270331	GM12878	blood:	n/a	n/a
18	BHLHE40	chr12:31391786-31392031	K562	blood:	n/a	n/a
19	BHLHE40	chr12:31270186-31270438	K562	blood:	n/a	n/a
20	BRCA1	chr12:31270178-31270208	GM12878	blood:	n/a	n/a
21	BRCA1	chr12:31390019-31390036	GM12878	blood:	n/a	n/a
22	BRCA1	chr12:31391842-31392078	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr12:31358885-31359398	HCT-116	colon:	n/a	n/a
24	CEBPB	chr12:31395234-31395493	IMR90	lung:	n/a	n/a
25	CEBPB	chr12:31268131-31268303	K562	blood:	n/a	chr12:31268208-31268217 chr12:31268206-31268219 chr12:31268208-31268217 chr12:31268208-31268217
26	CEBPB	chr12:31395273-31395514	HepG2	liver:	n/a	n/a
27	CEBPB	chr12:31268138-31268370	H1-hESC	embryonic stem cell:	n/a	chr12:31268208-31268217 chr12:31268206-31268219 chr12:31268208-31268217 chr12:31268208-31268217
28	CEBPB	chr12:31401823-31402021	Hela-S3	cervix:	n/a	chr12:31401914-31401925 chr12:31401931-31401942 chr12:31401890-31401901
29	CEBPB	chr12:31401755-31402127	A549	lung:	n/a	chr12:31401914-31401925 chr12:31401931-31401942 chr12:31401890-31401901
30	CEBPB	chr12:31268034-31268387	A549	lung:	n/a	chr12:31268208-31268217 chr12:31268206-31268219 chr12:31268208-31268217 chr12:31268208-31268217
31	CEBPB	chr12:31391806-31392080	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr12:31391866-31392108	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr12:31268038-31268391	IMR90	lung:	n/a	chr12:31268208-31268217 chr12:31268206-31268219 chr12:31268208-31268217 chr12:31268208-31268217
34	CEBPB	chr12:31355347-31355432	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr12:31268032-31268392	HepG2	liver:	n/a	chr12:31268208-31268217 chr12:31268206-31268219 chr12:31268208-31268217 chr12:31268208-31268217
36	CEBPB	chr12:31401830-31402026	HepG2	liver:	n/a	chr12:31401914-31401925 chr12:31401931-31401942 chr12:31401890-31401901
37	CEBPB	chr12:31268025-31268366	K562	blood:	n/a	chr12:31268208-31268217 chr12:31268206-31268219 chr12:31268208-31268217 chr12:31268208-31268217
38	CEBPB	chr12:31268200-31268216	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr12:31270194-31270459	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr12:31271857-31272216	K562	blood:	n/a	n/a
41	CHD2	chr12:31358885-31359207	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr12:31371770-31371778	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr12:31270114-31270314	GM12878	blood:	n/a	n/a
44	CHD2	chr12:31271851-31272155	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr12:31271974-31272145	GM12878	blood:	n/a	n/a
46	CTBP2	chr12:31270123-31270826	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTBP2	chr12:31271446-31272443	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:31391820-31391970	HCFaa	heart:	n/a	n/a
49	CTCF	chr12:31405320-31405470	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr12:31399177-31399315	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31276852-31276902	PrEC	prostate:	n/a
2	chr12:31276852-31276902	PrEC	prostate:	n/a
3	chr12:31276852-31276902	CMK	blood:	n/a
4	chr12:31276852-31276902	T-47D	breast:	n/a
5	chr12:31360362-31360412	MCF-7	breast:	n/a
6	chr12:31402470-31402520	Jurkat	blood:	n/a
7	chr12:31272112-31272162	HepG2	liver:	n/a
8	chr12:31370930-31370980	HRE	kidney:	n/a
9	chr12:31272114-31272164	ovcar-3	ovarian:	n/a
10	chr12:31272865-31272915	NB4	blood:	n/a
11	chr12:31272114-31272164	NHDF-neo	bronchial:	n/a
12	chr12:31272865-31272915	CMK	blood:	n/a
13	chr12:31402470-31402520	GM06990	blood:	n/a
14	chr12:31406441-31406491	PrEC	prostate:	n/a
15	chr12:31402470-31402520	HRCEpiC	kidney:	n/a
16	chr12:31378024-31378074	ProgFib	skin:	n/a
17	chr12:31360362-31360412	BE2_C	brain:	n/a
18	chr12:31405499-31405549	AG10803	skin:	n/a
19	chr12:31272865-31272915	NHBE	bronchial:	n/a
20	chr12:31270326-31270376	AG04449	skin:	fetal
21	chr12:31270326-31270376	HRE	kidney:	n/a
22	chr12:31272112-31272162	HMEC	breast:	n/a
23	chr12:31370930-31370980	AoSMC	blood vessel:	n/a
24	chr12:31405369-31405419	Caco-2	colon:	n/a
25	chr12:31405499-31405549	HRCEpiC	kidney:	n/a
26	chr12:31271783-31271833	AG04449	skin:	fetal
27	chr12:31276852-31276902	NT2-D1	testis:	n/a
28	chr12:31360362-31360412	NHDF-neo	bronchial:	n/a
29	chr12:31271429-31271479	SK-N-SH_RA	brain:	n/a
30	chr12:31276852-31276902	HPAEpiC	pulmonary alveolar:	n/a
31	chr12:31378024-31378074	PrEC	prostate:	n/a
32	chr12:31271783-31271833	SK-N-SH	brain:	n/a
33	chr12:31405499-31405549	CMK	blood:	n/a
34	chr12:31378024-31378074	AG10803	skin:	n/a
35	chr12:31272865-31272915	AG09309	skin:	n/a
36	chr12:31271783-31271833	HepG2	liver:	n/a
37	chr12:31360362-31360412	HPAEpiC	pulmonary alveolar:	n/a
38	chr12:31406441-31406491	AG04450	lung:	fetal
39	chr12:31406441-31406491	ECC-1	luminal epithelium:	n/a
40	chr12:31378024-31378074	PFSK-1	brain:	n/a
41	chr12:31272112-31272162	Jurkat	blood:	n/a
42	chr12:31405499-31405549	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:31378024-31378074	HCPEpiC	choroid plexus:	n/a
44	chr12:31406441-31406491	MCF10A-Er-Src	breast:	n/a
45	chr12:31402470-31402520	SK-N-MC	brain:	n/a
46	chr12:31272114-31272164	AG09319	gingival:	n/a
47	chr12:31271783-31271833	PFSK-1	brain:	n/a
48	chr12:31271429-31271479	PFSK-1	brain:	n/a
49	chr12:31272865-31272915	Hepatocyte	liver:	n/a
50	chr12:31402470-31402520	H1-hESC	embryonic stem cell:	embryo

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31269688..31270486-chr12:31404974..31405959,2	K562	blood:
2	chr12:31269688..31270486-chr12:31404974..31405959,2	K562	blood:
3	chr12:31375655..31377165-chr12:31378438..31380681,2	K562	blood:
4	chr12:31379791..31381896-chr12:31385949..31387933,2	MCF-7	breast:
5	chr12:31388279..31391169-chr12:31396495..31398764,2	K562	blood:
6	chr12:31375655..31377165-chr12:31378438..31380681,2	K562	blood:
7	chr12:31406545..31409230-chr12:31409522..31411986,2	MCF-7	breast:
8	chr12:30999874..31000492-chr12:31398859..31399728,2	K562	blood:
9	chr12:31226022..31227620-chr12:31260408..31262678,2	MCF-7	breast:
10	chr12:31399094..31400618-chr12:31401527..31404209,2	K562	blood:
11	chr12:31269781..31270824-chr12:31398705..31400061,4	MCF-7	breast:
12	chr12:31402402..31404809-chr12:31411238..31413851,2	K562	blood:
13	chr12:31399094..31400618-chr12:31401527..31404209,2	K562	blood:
14	chr12:31367559..31369470-chr12:31371193..31372754,2	MCF-7	breast:
15	chr12:31379791..31381896-chr12:31385949..31387933,2	MCF-7	breast:
16	chr12:31362737..31365081-chr12:31371772..31373605,2	MCF-7	breast:
17	chr12:31379295..31381181-chr12:31382279..31384326,2	MCF-7	breast:
18	chr12:31269317..31270662-chr12:31391620..31392355,3	MCF-7	breast:
19	chr12:31362737..31365081-chr12:31371772..31373605,2	MCF-7	breast:
20	chr12:31402332..31404405-chr12:31413108..31415272,2	MCF-7	breast:
21	chr12:31269943..31270748-chr12:31391487..31392373,2	K562	blood:
22	chr12:31358059..31360304-chr12:31368898..31371452,2	MCF-7	breast:
23	chr12:31403415..31403922-chr12:31424976..31425527,2	MCF-7	breast:
24	chr12:31379295..31381181-chr12:31382279..31384326,2	MCF-7	breast:
25	chr12:31399111..31400912-chr12:31476871..31479529,2	MCF-7	breast:
26	chr12:31402402..31404809-chr12:31411238..31413851,2	K562	blood:
27	chr12:31354080..31355986-chr12:31357943..31360954,3	K562	blood:
28	chr12:31391273..31391961-chr12:31404788..31405659,2	K562	blood:
29	chr12:31354464..31355986-chr12:31358238..31360954,2	K562	blood:
30	chr12:31412613..31414977-chr12:31423446..31425840,2	K562	blood:
31	chr12:31367559..31369470-chr12:31371193..31372754,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM60A-6	chr12:31269291-31269403	NONHSAT140066
2	lnc-FAM60A-6	chr12:31270354-31270558	NONHSAT140066
3	lnc-FAM60A-4	chr12:31367135-31367371	expReg_chr12_2391_-
4	lnc-AC024940.1-3	chr12:31397374-31397619	NONHSAT027541
5	lnc-FAM60A-7	chr12:31265915-31266017	NONHSAT027538
6	lnc-FAM60A-7	chr12:31267330-31267397	NONHSAT027538
7	lnc-FAM60A-7	chr12:31264627-31264743	NONHSAT027538
8	lnc-FAM60A-2	chr12:31407684-31407996	ucscGeneNc_uc001rkg_2

No data

Variant related genes	Relation type
ENSG00000270926	TF binding region
ENSG00000270766	TF binding region
ENSG00000270395	TF binding region
ENSG00000243517	TF binding region
ENSG00000177359	TF binding region
ENSG00000270926	CpG island
ENSG00000270766	CpG island
ENSG00000270395	CpG island
ENSG00000243517	CpG island
ENSG00000177359	CpG island
ENSG00000245614	chromatin interactions
ENSG00000139146	chromatin interactions
ENSG00000270395	chromatin interactions
ENSG00000177340	chromatin interactions
ENSG00000177359	chromatin interactions
ENSG00000243517	chromatin interactions
ENSG00000270766	chromatin interactions
ENSG00000013573	chromatin interactions

Extended variants
information (count: 4078 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:4078 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11219	chr12:31257695-31257696	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4031257	chr12:31257706-31257707	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3210556	chr12:31257716-31257717	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565891498	chr12:31257722-31257723	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181075495	chr12:31257756-31257757	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554899716	chr12:31257792-31257793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574711108	chr12:31257793-31257794	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543431672	chr12:31257794-31257795	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557347499	chr12:31257799-31257800	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577233568	chr12:31257826-31257827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545905603	chr12:31257827-31257828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199777270	chr12:31257845-31257846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559476138	chr12:31257857-31257858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113890654	chr12:31257865-31257866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4031260	chr12:31257873-31257874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573099459	chr12:31257886-31257887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542061478	chr12:31257908-31257909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1814312	chr12:31257926-31257927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4031262	chr12:31257942-31257943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185404574	chr12:31257969-31257970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2543290	chr12:31257998-31257999	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs549479967	chr12:31258028-31258029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2543291	chr12:31258094-31258095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397841856	chr12:31258098-31258099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555493510	chr12:31258115-31258116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563308540	chr12:31258121-31258122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397842878	chr12:31258126-31258127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35891704	chr12:31258142-31258143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78634754	chr12:31258169-31258170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532204692	chr12:31258174-31258175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2543293	chr12:31258175-31258176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552304916	chr12:31258220-31258221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563232094	chr12:31258271-31258272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575323289	chr12:31258295-31258296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548394083	chr12:31258308-31258309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568236605	chr12:31258348-31258349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537367676	chr12:31258384-31258385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557035439	chr12:31258388-31258389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576833064	chr12:31258424-31258425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539497736	chr12:31258435-31258436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77164399	chr12:31258531-31258532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397842877	chr12:31258550-31258551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3864918	chr12:31258552-31258553	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs67950629	chr12:31258573-31258574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573033663	chr12:31258579-31258580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189902496	chr12:31258615-31258616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77456976	chr12:31258644-31258645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs2075330	chr12:31258658-31258659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2075331	chr12:31258659-31258660	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs544897334	chr12:31258689-31258690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1402 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31227800-31266400	Weak transcription	HSMMtube	muscle
2	chr12:31228000-31258200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:31228000-31269800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:31228200-31261800	Weak transcription	Brain Substantia Nigra	brain
5	chr12:31228400-31259800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:31230800-31258000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:31233400-31259000	Weak transcription	NH-A	brain
8	chr12:31233400-31259800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:31233800-31260800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:31238600-31261000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:31242600-31259000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:31242600-31259200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:31242600-31259800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:31242600-31270200	Weak transcription	GM12878-XiMat	blood
15	chr12:31242800-31260000	Weak transcription	Left Ventricle	heart
16	chr12:31242800-31270200	Weak transcription	Primary B cells from cord blood	blood
17	chr12:31243000-31259800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:31245200-31259000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:31245200-31262200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:31245600-31259000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:31249800-31258800	Weak transcription	Fetal Lung	lung
22	chr12:31249800-31260000	Weak transcription	Brain Angular Gyrus	brain
23	chr12:31249800-31269800	Weak transcription	Primary T cells from cord blood	blood
24	chr12:31250000-31258200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:31250000-31260600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:31250400-31260000	Weak transcription	Ovary	ovary
27	chr12:31253000-31258000	Strong transcription	Fetal Thymus	thymus
28	chr12:31253000-31259400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:31253200-31257800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:31253200-31258000	Strong transcription	Dnd41	blood
31	chr12:31253200-31258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:31253200-31259800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:31253400-31257800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:31253400-31258000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:31253400-31258200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:31253600-31257800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:31253600-31258200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:31253600-31259200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:31253600-31259600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:31253600-31259600	Strong transcription	Fetal Brain Female	brain
41	chr12:31253600-31259600	Strong transcription	Fetal Stomach	stomach
42	chr12:31253600-31259600	Strong transcription	Thymus	Thymus
43	chr12:31253800-31257800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:31253800-31258000	Strong transcription	Brain Hippocampus Middle	brain
45	chr12:31254000-31257800	Strong transcription	Spleen	Spleen
46	chr12:31254200-31257800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:31254200-31258400	Weak transcription	Aorta	Aorta
48	chr12:31254600-31265800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:31255200-31257800	Strong transcription	Brain Germinal Matrix	brain
50	chr12:31255200-31257800	Weak transcription	Colonic Mucosa	Colon

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