Variant report

Variant	esv1842303
Chromosome Location	chr12:85284828-85356954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:85304904-85305500	H1-hESC	embryonic stem cell:	n/a	chr12:85305196-85305207
2	ATF2	chr12:85304987-85305439	H1-hESC	embryonic stem cell:	n/a	chr12:85305196-85305207
3	BACH1	chr12:85306376-85307360	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:85318786-85319125	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr12:85306516-85306552	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr12:85314034-85314408	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr12:85307093-85307218	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr12:85305066-85305337	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:85351626-85351930	HepG2	liver:	n/a	chr12:85351761-85351772
10	CEBPB	chr12:85306847-85307357	A549	lung:	n/a	n/a
11	CEBPB	chr12:85306902-85307256	A549	lung:	n/a	n/a
12	CEBPB	chr12:85293930-85294083	A549	lung:	n/a	chr12:85293967-85293978
13	CEBPB	chr12:85312319-85312504	K562	blood:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
14	CEBPB	chr12:85312197-85312540	HepG2	liver:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
15	CEBPB	chr12:85316431-85316947	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr12:85312245-85312403	H1-hESC	embryonic stem cell:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
17	CEBPB	chr12:85305055-85305369	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr12:85306502-85307327	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr12:85285233-85285419	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr12:85312202-85312559	Hela-S3	cervix:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
21	CEBPB	chr12:85313948-85314603	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:85312228-85312506	A549	lung:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
23	CEBPB	chr12:85305037-85305389	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr12:85312217-85312538	IMR90	lung:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
25	CEBPB	chr12:85293832-85294105	HepG2	liver:	n/a	chr12:85293967-85293978
26	CEBPB	chr12:85306919-85307191	HepG2	liver:	n/a	n/a
27	CEBPB	chr12:85332468-85332718	HepG2	liver:	n/a	n/a
28	CEBPB	chr12:85306754-85307282	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr12:85306923-85307295	A549	lung:	n/a	n/a
30	CHD1	chr12:85307363-85307593	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr12:85306578-85307161	H1-hESC	embryonic stem cell:	n/a	chr12:85306703-85306713
32	CHD1	chr12:85305236-85305942	H1-hESC	embryonic stem cell:	n/a	chr12:85305824-85305834
33	CHD2	chr12:85306214-85307363	Hela-S3	cervix:	n/a	chr12:85306703-85306713
34	CHD2	chr12:85314113-85314455	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr12:85305036-85305860	Hela-S3	cervix:	n/a	chr12:85305824-85305834
36	CHD2	chr12:85306214-85307458	H1-hESC	embryonic stem cell:	n/a	chr12:85306703-85306713
37	CHD2	chr12:85305104-85305852	H1-hESC	embryonic stem cell:	n/a	chr12:85305824-85305834
38	CREB1	chr12:85305872-85306966	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr12:85305042-85305455	A549	lung:	n/a	n/a
40	CREB1	chr12:85304857-85305920	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr12:85304938-85305432	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr12:85306288-85306860	A549	lung:	n/a	n/a
43	CREB1	chr12:85304962-85305331	A549	lung:	n/a	n/a
44	CREB1	chr12:85305987-85306935	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTBP2	chr12:85305000-85307299	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:85306600-85306750	HAc	cerebellar:	n/a	n/a
47	CTCF	chr12:85306580-85306730	AG10803	skin:	n/a	n/a
48	CTCF	chr12:85306560-85306710	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr12:85306600-85306750	A549	lung:	n/a	n/a
50	CTCF	chr12:85306560-85306710	BJ	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:85304696-85304746	GM06990	blood:	n/a
2	chr12:85305219-85305269	U87	brain:	n/a
3	chr12:85307080-85307130	ProgFib	skin:	n/a
4	chr12:85304696-85304746	GM06990	blood:	n/a
5	chr12:85305219-85305269	U87	brain:	n/a
6	chr12:85307080-85307130	ProgFib	skin:	n/a
7	chr12:85307152-85307202	ECC-1	luminal epithelium:	n/a
8	chr12:85306574-85306624	CMK	blood:	n/a
9	chr12:85306828-85306878	HEK293	kidney:	embryo
10	chr12:85306323-85306373	LNCaP	prostate:	n/a
11	chr12:85305219-85305269	HAEpiC	amniotic membrane:	n/a
12	chr12:85307152-85307202	HL-60	blood:	n/a
13	chr12:85305408-85305458	HCM	heart:	n/a
14	chr12:85306854-85306904	PANC-1	pancreas:	n/a
15	chr12:85305677-85305727	AoSMC	blood vessel:	n/a
16	chr12:85306548-85306598	HCF	heart:	n/a
17	chr12:85305677-85305727	PFSK-1	brain:	n/a
18	chr12:85307152-85307202	GM12892	blood:	n/a
19	chr12:85306648-85306698	LNCaP	prostate:	n/a
20	chr12:85305829-85305879	MCF-7	breast:	n/a
21	chr12:85306741-85306791	SKMC	muscle:	n/a
22	chr12:85307080-85307130	A549	lung:	n/a
23	chr12:85302937-85302987	AG04449	skin:	fetal
24	chr12:85306828-85306878	SKMC	muscle:	n/a
25	chr12:85306916-85306966	PFSK-1	brain:	n/a
26	chr12:85305829-85305879	HIPEpiC	eye:	n/a
27	chr12:85307131-85307181	AG04449	skin:	fetal
28	chr12:85306797-85306847	ovcar-3	ovarian:	n/a
29	chr12:85306021-85306071	MCF10A-Er-Src	breast:	n/a
30	chr12:85307131-85307181	LNCaP	prostate:	n/a
31	chr12:85306574-85306624	T-47D	breast:	n/a
32	chr12:85306474-85306524	A549	lung:	n/a
33	chr12:85307080-85307130	K562	blood:	n/a
34	chr12:85306021-85306071	HepG2	liver:	n/a
35	chr12:85302937-85302987	ECC-1	luminal epithelium:	n/a
36	chr12:85306854-85306904	AG04449	skin:	fetal
37	chr12:85306741-85306791	AG04450	lung:	fetal
38	chr12:85307080-85307130	PFSK-1	brain:	n/a
39	chr12:85306323-85306373	IMR90	lung:	fetal
40	chr12:85306323-85306373	HIPEpiC	eye:	n/a
41	chr12:85305829-85305879	GM06990	blood:	n/a
42	chr12:85307080-85307130	AG09309	skin:	n/a
43	chr12:85305829-85305879	HRPEpiC	eye:	n/a
44	chr12:85306574-85306624	SAEC	small airway:	n/a
45	chr12:85306741-85306791	MCF10A-Er-Src	breast:	n/a
46	chr12:85306854-85306904	CMK	blood:	n/a
47	chr12:85306797-85306847	HNPCEpiC	eye:	n/a
48	chr12:85302937-85302987	Hepatocyte	liver:	n/a
49	chr12:85306828-85306878	Hepatocyte	liver:	n/a
50	chr12:85306648-85306698	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:85287799..85288304-chr17:41465245..41465882,2	Hela-S3	cervix:
2	chr12:85287797..85288304-chr3:73159863..73160610,2	Hela-S3	cervix:
3	chr12:50222179..50223090-chr12:85304791..85305560,2	Hela-S3	cervix:
4	chr12:85275674..85277179-chr12:85300709..85303261,2	K562	blood:
5	chr12:85328199..85330648-chr17:56736325..56738042,2	MCF-7	breast:
6	chr11:10315577..10316374-chr12:85304790..85305756,2	Hela-S3	cervix:
7	chr11:62609070..62609626-chr12:85287765..85288304,2	NB4	blood:
8	chr12:85305841..85306396-chr17:26988797..26989434,2	Hela-S3	cervix:
9	chr12:85336200..85337142-chr21:42086859..42087753,2	MCF-7	breast:
10	chr1:47779341..47780185-chr12:85304853..85305718,2	Hela-S3	cervix:
11	chr12:85287784..85288299-chr17:41465185..41465702,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRIQ1-1	chr12:85306655-85306683	XLOC_009819
2	lnc-LRRIQ1-1	chr12:85308536-85308641	XLOC_009819
3	lnc-LRRIQ1-1	chr12:85306659-85306683	XLOC_009819
4	lnc-LRRIQ1-1	chr12:85332117-85332243	XLOC_009819
5	lnc-LRRIQ1-1	chr12:85308536-85308641	XLOC_009819

Variant related genes	Relation type
ENSG00000258073	TF binding region
SLC6A15	TF binding region
ENSG00000258073	CpG island
SLC6A15	CpG island
ENSG00000223247	chromatin interactions
ENSG00000258057	chromatin interactions
ENSG00000133812	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000132581	chromatin interactions
ENSG00000109111	chromatin interactions
ENSG00000123473	chromatin interactions
ENSG00000167566	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 2329 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2329 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17787970	chr12:85284828-85284829	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376038684	chr12:85284881-85284882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560207278	chr12:85284892-85284893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527724169	chr12:85284905-85284906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189486526	chr12:85284917-85284918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370313770	chr12:85284928-85284929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567891150	chr12:85285000-85285001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558434327	chr12:85285024-85285025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148241826	chr12:85285056-85285057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550462603	chr12:85285067-85285068	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80347036	chr12:85285082-85285083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539188856	chr12:85285100-85285101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112246910	chr12:85285115-85285116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553956749	chr12:85285165-85285166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565761595	chr12:85285174-85285175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570357719	chr12:85285188-85285189	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11116645	chr12:85285192-85285193	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551119464	chr12:85285197-85285198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554529897	chr12:85285205-85285206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2123186	chr12:85285222-85285223	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181598968	chr12:85285229-85285230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558382006	chr12:85285234-85285235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530103708	chr12:85285250-85285251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576671076	chr12:85285313-85285314	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78240588	chr12:85285364-85285365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560415717	chr12:85285441-85285442	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527763424	chr12:85285526-85285527	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367871156	chr12:85285583-85285584	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549934468	chr12:85285590-85285591	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542726260	chr12:85285612-85285613	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199930176	chr12:85285624-85285625	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150860765	chr12:85285676-85285677	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531698919	chr12:85285686-85285687	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369476868	chr12:85285702-85285703	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550500645	chr12:85285728-85285729	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374181917	chr12:85285738-85285739	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139354471	chr12:85285755-85285756	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186951156	chr12:85285803-85285804	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150047699	chr12:85285806-85285807	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372993628	chr12:85285816-85285817	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202085887	chr12:85285817-85285818	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145380843	chr12:85285861-85285862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554324708	chr12:85285868-85285869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569633287	chr12:85285911-85285912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36111430	chr12:85285920-85285921	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562079591	chr12:85285921-85285922	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528010501	chr12:85285922-85285923	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569423993	chr12:85285923-85285924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557150994	chr12:85285931-85285932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372436158	chr12:85285935-85285936	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85251000-85303000	Weak transcription	NHEK	skin
2	chr12:85251800-85285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:85254000-85289800	Weak transcription	Brain Angular Gyrus	brain
4	chr12:85269200-85289800	Weak transcription	Hela-S3	cervix
5	chr12:85269400-85285800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:85275400-85285400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:85277800-85303000	Weak transcription	HMEC	breast
8	chr12:85280800-85286000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:85281400-85302800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:85283600-85286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:85284000-85285400	Enhancers	Brain Substantia Nigra	brain
12	chr12:85284400-85285400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:85284800-85285400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:85284800-85285800	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:85285000-85285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:85285000-85285800	Enhancers	Brain Hippocampus Middle	brain
17	chr12:85285000-85286000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:85285400-85285800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:85285400-85285800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:85285400-85285800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:85285400-85286000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:85285400-85286000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:85285400-85292800	Weak transcription	Brain Substantia Nigra	brain
24	chr12:85285800-85287200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:85285800-85289800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:85285800-85292600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:85285800-85302600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:85286000-85289600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:85286000-85289600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:85286000-85292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:85286000-85300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:85289600-85291000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:85289800-85290000	Genic enhancers	Hela-S3	cervix
34	chr12:85289800-85290200	Enhancers	Brain Angular Gyrus	brain
35	chr12:85289800-85290400	Active TSS	Brain Hippocampus Middle	brain
36	chr12:85290000-85290200	Enhancers	Hela-S3	cervix
37	chr12:85290200-85304200	Weak transcription	Brain Angular Gyrus	brain
38	chr12:85290200-85304200	Weak transcription	Hela-S3	cervix
39	chr12:85290400-85292600	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:85291000-85292600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:85292600-85292800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:85292600-85292800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:85292600-85293200	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:85292600-85293600	Enhancers	Brain Hippocampus Middle	brain
45	chr12:85292800-85293000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:85292800-85293200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:85292800-85293400	Enhancers	Brain Substantia Nigra	brain
48	chr12:85293000-85293400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:85293200-85293400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:85293400-85294200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links