Variant report

Variant	esv2422254
Chromosome Location	chr12:31128132-31326508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2863)
CpG islands
(count:2260)
Chromatin interactive
region (count:24)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2863 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:31227121-31227652	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:31227278-31227505	K562	blood:	n/a	n/a
3	ARID3A	chr12:31226612-31226780	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:31205625-31205628	HepG2	liver:	n/a	n/a
5	ATF1	chr12:31267437-31267611	K562	blood:	n/a	n/a
6	ATF1	chr12:31230204-31230267	K562	blood:	n/a	n/a
7	ATF1	chr12:31219201-31219422	K562	blood:	n/a	n/a
8	ATF2	chr12:31270089-31270375	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr12:31226662-31226898	K562	blood:	n/a	n/a
10	BACH1	chr12:31226535-31226812	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:31270094-31270475	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr12:31182528-31182802	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr12:31226544-31227607	GM12878	blood:	n/a	n/a
14	BATF	chr12:31233393-31233591	GM12878	blood:	n/a	n/a
15	BATF	chr12:31253312-31253563	GM12878	blood:	n/a	n/a
16	BATF	chr12:31200617-31200912	GM12878	blood:	n/a	chr12:31200777-31200788
17	BATF	chr12:31204619-31204884	GM12878	blood:	n/a	n/a
18	BATF	chr12:31227825-31228526	GM12878	blood:	n/a	chr12:31228339-31228347
19	BATF	chr12:31228050-31228506	GM12878	blood:	n/a	chr12:31228339-31228347
20	BATF	chr12:31233397-31233563	GM12878	blood:	n/a	n/a
21	BATF	chr12:31200609-31200914	GM12878	blood:	n/a	chr12:31200777-31200788
22	BCL11A	chr12:31133143-31133385	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:31226719-31227117	GM12878	blood:	n/a	chr12:31226785-31226794 chr12:31227056-31227065
24	BCL11A	chr12:31228135-31228506	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:31227413-31227974	GM12878	blood:	n/a	chr12:31227476-31227485 chr12:31227507-31227514
26	BCL11A	chr12:31227467-31227641	GM12878	blood:	n/a	chr12:31227476-31227485 chr12:31227507-31227514
27	BCL11A	chr12:31226764-31227047	GM12878	blood:	n/a	chr12:31226785-31226794
28	BCL11A	chr12:31228004-31228492	GM12878	blood:	n/a	n/a
29	BCL3	chr12:31236203-31236417	GM12878	blood:	n/a	n/a
30	BCL3	chr12:31236196-31236433	GM12878	blood:	n/a	n/a
31	BHLHE40	chr12:31203581-31203781	K562	blood:	n/a	n/a
32	BHLHE40	chr12:31165039-31165126	K562	blood:	n/a	n/a
33	BHLHE40	chr12:31227096-31227339	K562	blood:	n/a	chr12:31227176-31227192
34	BHLHE40	chr12:31253866-31254071	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:31252507-31252676	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:31138858-31138979	K562	blood:	n/a	n/a
37	BHLHE40	chr12:31270186-31270438	K562	blood:	n/a	n/a
38	BHLHE40	chr12:31204659-31204964	GM12878	blood:	n/a	n/a
39	BHLHE40	chr12:31226533-31226888	K562	blood:	n/a	n/a
40	BHLHE40	chr12:31253434-31253625	GM12878	blood:	n/a	n/a
41	BHLHE40	chr12:31219222-31219531	K562	blood:	n/a	n/a
42	BHLHE40	chr12:31143178-31143220	A549	lung:	n/a	n/a
43	BHLHE40	chr12:31227101-31227187	GM12878	blood:	n/a	n/a
44	BHLHE40	chr12:31226599-31226889	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:31270127-31270331	GM12878	blood:	n/a	n/a
46	BRCA1	chr12:31226630-31226830	GM12878	blood:	n/a	n/a
47	BRCA1	chr12:31226555-31227323	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr12:31270178-31270208	GM12878	blood:	n/a	n/a
49	CBX3	chr12:31219097-31219592	K562	blood:	n/a	n/a
50	CBX3	chr12:31226185-31227769	K562	blood:	n/a	n/a

(count:2260 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31274424-31274474	LNCaP	prostate:	n/a
2	chr12:31241496-31241546	HRPEpiC	eye:	n/a
3	chr12:31272865-31272915	GM06990	blood:	n/a
4	chr12:31274424-31274474	LNCaP	prostate:	n/a
5	chr12:31241496-31241546	HRPEpiC	eye:	n/a
6	chr12:31272865-31272915	GM06990	blood:	n/a
7	chr12:31138958-31139008	GM06990	blood:	n/a
8	chr12:31226606-31226656	HepG2	liver:	n/a
9	chr12:31145469-31145519	AG10803	skin:	n/a
10	chr12:31270326-31270376	HCM	heart:	n/a
11	chr12:31272119-31272169	AG09319	gingival:	n/a
12	chr12:31138958-31139008	GM19239	blood:	n/a
13	chr12:31257362-31257412	HRPEpiC	eye:	n/a
14	chr12:31226952-31227002	PANC-1	pancreas:	n/a
15	chr12:31149418-31149468	CMK	blood:	n/a
16	chr12:31224413-31224463	GM12891	blood:	n/a
17	chr12:31254036-31254086	SK-N-SH	brain:	n/a
18	chr12:31226801-31226851	GM06990	blood:	n/a
19	chr12:31226606-31226656	HUVEC	blood vessel:	n/a
20	chr12:31257362-31257412	AG09319	gingival:	n/a
21	chr12:31254007-31254057	T-47D	breast:	n/a
22	chr12:31226441-31226491	BJ	skin:	n/a
23	chr12:31270326-31270376	SK-N-SH	brain:	n/a
24	chr12:31271783-31271833	H1-hESC	embryonic stem cell:	embryo
25	chr12:31226801-31226851	Hepatocyte	liver:	n/a
26	chr12:31226622-31226672	H1-hESC	embryonic stem cell:	embryo
27	chr12:31272119-31272169	MCF-7	breast:	n/a
28	chr12:31230936-31230986	HCM	heart:	n/a
29	chr12:31223310-31223360	HRCEpiC	kidney:	n/a
30	chr12:31149418-31149468	NT2-D1	testis:	n/a
31	chr12:31226606-31226656	HCT-116	colon:	n/a
32	chr12:31272114-31272164	SK-N-SH	brain:	n/a
33	chr12:31224413-31224463	AG04450	lung:	fetal
34	chr12:31226632-31226682	HRPEpiC	eye:	n/a
35	chr12:31156691-31156741	NH-A	brain:	n/a
36	chr12:31271429-31271479	PANC-1	pancreas:	n/a
37	chr12:31226632-31226682	HMEC	breast:	n/a
38	chr12:31272114-31272164	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:31255279-31255329	HNPCEpiC	eye:	n/a
40	chr12:31224413-31224463	HRPEpiC	eye:	n/a
41	chr12:31241496-31241546	Hepatocyte	liver:	n/a
42	chr12:31226632-31226682	LNCaP	prostate:	n/a
43	chr12:31156691-31156741	T-47D	breast:	n/a
44	chr12:31149418-31149468	SK-N-SH_RA	brain:	n/a
45	chr12:31254036-31254086	NB4	blood:	n/a
46	chr12:31138958-31139008	PFSK-1	brain:	n/a
47	chr12:31270326-31270376	HAEpiC	amniotic membrane:	n/a
48	chr12:31255279-31255329	GM12892	blood:	n/a
49	chr12:31226536-31226586	Jurkat	blood:	n/a
50	chr12:31226952-31227002	AG04450	lung:	fetal

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9436173..9436735-chr12:31226434..31227168,3	Hela-S3	cervix:
2	chr12:31269688..31270486-chr12:31404974..31405959,2	K562	blood:
3	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
4	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
5	chr12:31226738..31227630-chr20:47894738..47895520,2	Hela-S3	cervix:
6	chr12:31173555..31175653-chr12:31188660..31191059,2	MCF-7	breast:
7	chr12:31190011..31191899-chr12:31193367..31195134,2	K562	blood:
8	chr12:31173555..31175653-chr12:31188660..31191059,2	MCF-7	breast:
9	chr12:9620489..9621323-chr12:31206721..31207493,2	MCF-7	breast:
10	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
11	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
12	chr12:31191870..31193698-chr12:31194648..31196462,2	K562	blood:
13	chr12:31191870..31193698-chr12:31194648..31196462,2	K562	blood:
14	chr12:31190011..31191899-chr12:31193367..31195134,2	K562	blood:
15	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
16	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
17	chr12:9620209..9621328-chr12:31206996..31207808,4	MCF-7	breast:
18	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:
19	chr12:31159465..31161712-chr12:31163343..31166025,2	K562	blood:
20	chr12:31226022..31227620-chr12:31260408..31262678,2	MCF-7	breast:
21	chr12:9435913..9436700-chr12:31226425..31227148,3	HCT-116	colon:
22	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
23	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
24	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM60A-7	chr12:31265915-31266017	NONHSAT027538
2	lnc-FAM60A-7	chr12:31264627-31264743	NONHSAT027538
3	lnc-FAM60A-1	chr12:31203850-31204329	ENSG00000245614
4	lnc-FAM60A-6	chr12:31270354-31270558	NONHSAT140066
5	lnc-FAM60A-6	chr12:31269291-31269403	NONHSAT140066
6	lnc-FAM60A-1	chr12:31213594-31213684	ENSG00000245614
7	lnc-FAM60A-7	chr12:31267330-31267397	NONHSAT027538

No data

Variant related genes	Relation type
DDX11-AS1	TF binding region
ENSG00000226472	TF binding region
ENSG00000270926	TF binding region
ENSG00000212533	TF binding region
ENSG00000177359	TF binding region
ENSG00000256984	TF binding region
DDX11	TF binding region
DDX11-AS1	CpG island
ENSG00000226472	CpG island
ENSG00000270926	CpG island
ENSG00000212533	CpG island
ENSG00000177359	CpG island
ENSG00000256984	CpG island
DDX11	CpG island
ENSG00000256984	chromatin interactions
ENSG00000013573	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000245614	chromatin interactions
ENSG00000243517	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000111788	chromatin interactions
TBC1D9	miRNA target sites
ANKRD29	miRNA target sites

Extended variants
information (count: 6903 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:6903 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572252606	chr12:31128150-31128151	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs149863492	chr12:31128162-31128163	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs373421019	chr12:31128163-31128164	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs554508384	chr12:31128189-31128190	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs372417890	chr12:31128211-31128212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575827323	chr12:31128272-31128273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374839164	chr12:31128332-31128333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544243735	chr12:31128394-31128395	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575934830	chr12:31128428-31128429	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540693709	chr12:31128431-31128432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367644165	chr12:31128435-31128436	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559258163	chr12:31128466-31128467	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147454151	chr12:31128500-31128501	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145894059	chr12:31128588-31128589	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543297570	chr12:31128591-31128592	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76285683	chr12:31128593-31128594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531921192	chr12:31128595-31128596	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550334009	chr12:31128597-31128598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139879047	chr12:31128598-31128599	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1950	chr12:31128606-31128607	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs40423	chr12:31128621-31128622	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs547484153	chr12:31128651-31128652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs566055943	chr12:31128674-31128675	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs536196908	chr12:31128676-31128677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs145422790	chr12:31128677-31128678	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs569547238	chr12:31128694-31128695	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs536862502	chr12:31128795-31128796	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147698132	chr12:31128848-31128849	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs369466765	chr12:31128867-31128868	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs372886720	chr12:31128879-31128880	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs541082682	chr12:31128897-31128898	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs10843868	chr12:31128920-31128921	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574371200	chr12:31128922-31128923	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs542979950	chr12:31128926-31128927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs561550254	chr12:31128944-31128945	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs10843869	chr12:31128946-31128947	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs149174655	chr12:31128958-31128959	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs185953115	chr12:31128959-31128960	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs74566125	chr12:31128972-31128973	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs35102	chr12:31128988-31128989	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77252366	chr12:31129006-31129007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs190364197	chr12:31129049-31129050	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs536862786	chr12:31129082-31129083	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs16907089	chr12:31129130-31129131	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548142337	chr12:31129167-31129168	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs569637832	chr12:31129173-31129174	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs11051193	chr12:31129175-31129176	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181484997	chr12:31129176-31129177	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs185581444	chr12:31129180-31129181	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs534850863	chr12:31129189-31129190	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2774 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31108000-31130600	Weak transcription	Fetal Brain Female	brain
2	chr12:31117200-31128400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:31122800-31133600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:31124000-31129200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:31124000-31129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:31124000-31129400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:31124200-31128200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:31124200-31128800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:31125000-31128600	Enhancers	Fetal Heart	heart
10	chr12:31126200-31128800	Weak transcription	Brain Angular Gyrus	brain
11	chr12:31126400-31130600	Weak transcription	Spleen	Spleen
12	chr12:31126800-31128600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:31127000-31128200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:31127000-31132600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:31127200-31128600	Weak transcription	Fetal Stomach	stomach
16	chr12:31127400-31128400	Strong transcription	Brain Germinal Matrix	brain
17	chr12:31127400-31130800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:31127600-31128200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:31127600-31129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:31127600-31129600	Enhancers	Right Ventricle	heart
21	chr12:31128000-31128200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:31128200-31129000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:31128200-31133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:31128200-31134600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:31128400-31128600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:31128400-31142800	Weak transcription	Brain Germinal Matrix	brain
27	chr12:31128600-31128800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:31128600-31129000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:31128600-31129000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:31128600-31130000	Enhancers	NHDF-Ad	bronchial
31	chr12:31128600-31130600	Weak transcription	Fetal Heart	heart
32	chr12:31128600-31135800	Enhancers	Fetal Stomach	stomach
33	chr12:31128800-31129200	Enhancers	Brain Cingulate Gyrus	brain
34	chr12:31128800-31129200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr12:31128800-31129600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:31128800-31130200	Enhancers	Brain Angular Gyrus	brain
37	chr12:31129000-31129200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:31129000-31129600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:31129000-31130000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:31129000-31130400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:31129000-31130600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:31129000-31131400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:31129000-31133800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr12:31129200-31129400	Enhancers	Fetal Thymus	thymus
45	chr12:31129200-31129800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:31129200-31130600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:31129200-31134400	Enhancers	Fetal Muscle Leg	muscle
48	chr12:31129400-31129600	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr12:31129400-31129800	Enhancers	Brain Hippocampus Middle	brain
50	chr12:31129400-31130000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links