Variant report

Variant	nsv899385
Chromosome Location	chr12:85249218-85339254
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	ARID3A	chr12:85268354-85268642	K562	blood:	n/a	n/a
2	ARID3A	chr12:85268279-85268603	HepG2	liver:	n/a	n/a
3	ATF2	chr12:85304987-85305439	H1-hESC	embryonic stem cell:	n/a	chr12:85305196-85305207
4	ATF2	chr12:85304904-85305500	H1-hESC	embryonic stem cell:	n/a	chr12:85305196-85305207
5	BACH1	chr12:85318786-85319125	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr12:85251635-85251968	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr12:85306376-85307360	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr12:85314034-85314408	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr12:85305066-85305337	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr12:85306516-85306552	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr12:85307093-85307218	Hela-S3	cervix:	n/a	n/a
12	CCNT2	chr12:85267940-85268140	K562	blood:	n/a	n/a
13	CEBPB	chr12:85273382-85273621	IMR90	lung:	n/a	chr12:85273466-85273477 chr12:85273465-85273478
14	CEBPB	chr12:85260209-85260382	A549	lung:	n/a	n/a
15	CEBPB	chr12:85305055-85305369	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr12:85273318-85273635	A549	lung:	n/a	chr12:85273466-85273477 chr12:85273465-85273478
17	CEBPB	chr12:85312217-85312538	IMR90	lung:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
18	CEBPB	chr12:85312197-85312540	HepG2	liver:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
19	CEBPB	chr12:85316431-85316947	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr12:85332468-85332718	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:85306923-85307295	A549	lung:	n/a	n/a
22	CEBPB	chr12:85261428-85261650	HepG2	liver:	n/a	chr12:85261574-85261587 chr12:85261574-85261587 chr12:85261575-85261586
23	CEBPB	chr12:85268168-85268658	A549	lung:	n/a	n/a
24	CEBPB	chr12:85305037-85305389	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr12:85312228-85312506	A549	lung:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
26	CEBPB	chr12:85273336-85273604	HepG2	liver:	n/a	chr12:85273466-85273477 chr12:85273465-85273478
27	CEBPB	chr12:85283148-85283255	HepG2	liver:	n/a	chr12:85283223-85283234
28	CEBPB	chr12:85293930-85294083	A549	lung:	n/a	chr12:85293967-85293978
29	CEBPB	chr12:85306754-85307282	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr12:85313948-85314603	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr12:85306902-85307256	A549	lung:	n/a	n/a
32	CEBPB	chr12:85268323-85268623	K562	blood:	n/a	n/a
33	CEBPB	chr12:85268226-85268641	HepG2	liver:	n/a	n/a
34	CEBPB	chr12:85268297-85268666	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr12:85285233-85285419	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr12:85283076-85283339	H1-hESC	embryonic stem cell:	n/a	chr12:85283223-85283234
37	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
38	CEBPB	chr12:85306919-85307191	HepG2	liver:	n/a	n/a
39	CEBPB	chr12:85268104-85268751	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr12:85268353-85268653	MCF-7	breast:	n/a	n/a
41	CEBPB	chr12:85273326-85273578	Hela-S3	cervix:	n/a	chr12:85273466-85273477 chr12:85273465-85273478
42	CEBPB	chr12:85293832-85294105	HepG2	liver:	n/a	chr12:85293967-85293978
43	CEBPB	chr12:85268175-85268753	A549	lung:	n/a	n/a
44	CEBPB	chr12:85268313-85268684	IMR90	lung:	n/a	n/a
45	CEBPB	chr12:85312202-85312559	Hela-S3	cervix:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
46	CEBPB	chr12:85283044-85283335	HepG2	liver:	n/a	chr12:85283223-85283234
47	CEBPB	chr12:85306847-85307357	A549	lung:	n/a	n/a
48	CEBPB	chr12:85268226-85268674	HCT-116	colon:	n/a	n/a
49	CEBPB	chr12:85312319-85312504	K562	blood:	n/a	chr12:85312380-85312391 chr12:85312378-85312391 chr12:85312378-85312391 chr12:85312378-85312389 chr12:85312378-85312391
50	CEBPB	chr12:85306502-85307327	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:85304514-85304564	HEEpiC	esophagus:	n/a
2	chr12:85304514-85304564	HIPEpiC	eye:	n/a
3	chr12:85304514-85304564	HEEpiC	esophagus:	n/a
4	chr12:85304514-85304564	HIPEpiC	eye:	n/a
5	chr12:85285441-85285491	SK-N-MC	brain:	n/a
6	chr12:85307424-85307474	HAEpiC	amniotic membrane:	n/a
7	chr12:85306854-85306904	GM06990	blood:	n/a
8	chr12:85304696-85304746	A549	lung:	n/a
9	chr12:85305829-85305879	HRE	kidney:	n/a
10	chr12:85306474-85306524	HEEpiC	esophagus:	n/a
11	chr12:85306474-85306524	GM12891	blood:	n/a
12	chr12:85285441-85285491	NB4	blood:	n/a
13	chr12:85305742-85305792	A549	lung:	n/a
14	chr12:85306648-85306698	Hela-S3	cervix:	n/a
15	chr12:85304514-85304564	HCPEpiC	choroid plexus:	n/a
16	chr12:85306323-85306373	HEEpiC	esophagus:	n/a
17	chr12:85302937-85302987	GM12878	blood:	n/a
18	chr12:85282560-85282610	Hepatocyte	liver:	n/a
19	chr12:85304696-85304746	SK-N-SH_RA	brain:	n/a
20	chr12:85307424-85307474	GM12892	blood:	n/a
21	chr12:85306797-85306847	HAEpiC	amniotic membrane:	n/a
22	chr12:85282560-85282610	SAEC	small airway:	n/a
23	chr12:85285441-85285491	K562	blood:	n/a
24	chr12:85306548-85306598	ECC-1	luminal epithelium:	n/a
25	chr12:85306474-85306524	GM12878	blood:	n/a
26	chr12:85285441-85285491	Caco-2	colon:	n/a
27	chr12:85307080-85307130	CMK	blood:	n/a
28	chr12:85305829-85305879	AG10803	skin:	n/a
29	chr12:85304514-85304564	HepG2	liver:	n/a
30	chr12:85305219-85305269	NH-A	brain:	n/a
31	chr12:85304514-85304564	ProgFib	skin:	n/a
32	chr12:85306548-85306598	SK-N-MC	brain:	n/a
33	chr12:85306574-85306624	HEK293	kidney:	embryo
34	chr12:85306323-85306373	MCF10A-Er-Src	breast:	n/a
35	chr12:85306474-85306524	GM12892	blood:	n/a
36	chr12:85307080-85307130	PANC-1	pancreas:	n/a
37	chr12:85307131-85307181	NH-A	brain:	n/a
38	chr12:85307424-85307474	NB4	blood:	n/a
39	chr12:85307080-85307130	GM12892	blood:	n/a
40	chr12:85307424-85307474	PrEC	prostate:	n/a
41	chr12:85306323-85306373	SK-N-SH_RA	brain:	n/a
42	chr12:85304696-85304746	HCF	heart:	n/a
43	chr12:85282560-85282610	NT2-D1	testis:	n/a
44	chr12:85304514-85304564	SAEC	small airway:	n/a
45	chr12:85307131-85307181	NHBE	bronchial:	n/a
46	chr12:85307080-85307130	Caco-2	colon:	n/a
47	chr12:85307152-85307202	PANC-1	pancreas:	n/a
48	chr12:85306648-85306698	PFSK-1	brain:	n/a
49	chr12:85302937-85302987	PANC-1	pancreas:	n/a
50	chr12:85305829-85305879	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:85287797..85288304-chr3:73159863..73160610,2	Hela-S3	cervix:
2	chr12:85270876..85273150-chr12:85276094..85278154,2	MCF-7	breast:
3	chr12:85328199..85330648-chr17:56736325..56738042,2	MCF-7	breast:
4	chr1:47779341..47780185-chr12:85304853..85305718,2	Hela-S3	cervix:
5	chr12:85287799..85288304-chr17:41465245..41465882,2	Hela-S3	cervix:
6	chr12:85336200..85337142-chr21:42086859..42087753,2	MCF-7	breast:
7	chr12:85305841..85306396-chr17:26988797..26989434,2	Hela-S3	cervix:
8	chr11:62609070..62609626-chr12:85287765..85288304,2	NB4	blood:
9	chr12:85269198..85269791-chr12:85451134..85451813,2	MCF-7	breast:
10	chr12:85287784..85288299-chr17:41465185..41465702,2	NB4	blood:
11	chr12:50222179..50223090-chr12:85304791..85305560,2	Hela-S3	cervix:
12	chr12:85275674..85277179-chr12:85300709..85303261,2	K562	blood:
13	chr12:85270876..85273150-chr12:85276094..85278154,2	MCF-7	breast:
14	chr11:10315577..10316374-chr12:85304790..85305756,2	Hela-S3	cervix:
15	chr12:85257218..85259275-chr12:85261171..85263278,2	K562	blood:
16	chr12:85275674..85277179-chr12:85300709..85303261,2	K562	blood:
17	chr12:85268551..85271336-chr12:85421363..85424699,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRIQ1-1	chr12:85306655-85306683	XLOC_009819
2	lnc-LRRIQ1-1	chr12:85332117-85332243	XLOC_009819
3	lnc-LRRIQ1-1	chr12:85308536-85308641	XLOC_009819
4	lnc-TSPAN19-2	chr12:85258120-85259169	NONHSAT029740
5	lnc-LRRIQ1-1	chr12:85306659-85306683	XLOC_009819
6	lnc-LRRIQ1-1	chr12:85308536-85308641	XLOC_009819

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC6A15	hsa-miR-23a-3p	chr12:85277173-85277191
2	SLC6A15	hsa-miR-23b-3p	chr12:85277173-85277193

Variant related genes	Relation type
ENSG00000258073	TF binding region
SLC6A15	TF binding region
ENSG00000258073	CpG island
SLC6A15	CpG island
ENSG00000188825	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000072041	chromatin interactions
ENSG00000123473	chromatin interactions
ENSG00000167566	chromatin interactions
ENSG00000109111	chromatin interactions
ENSG00000258057	chromatin interactions
ENSG00000132581	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000133812	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 3194 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3194 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7137478	chr12:85249218-85249219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192192311	chr12:85249272-85249273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562236234	chr12:85249321-85249322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375406162	chr12:85249343-85249344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552908767	chr12:85249357-85249358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117070406	chr12:85249382-85249383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537184511	chr12:85249414-85249415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148881460	chr12:85249427-85249428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542128440	chr12:85249565-85249566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535032741	chr12:85249588-85249589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76173389	chr12:85249629-85249630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575210595	chr12:85249631-85249632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563806049	chr12:85249646-85249647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200842973	chr12:85249714-85249715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184749130	chr12:85249735-85249736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189610933	chr12:85249744-85249745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180684002	chr12:85249746-85249747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117246419	chr12:85249759-85249760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184550140	chr12:85249772-85249773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531268792	chr12:85249776-85249777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543232693	chr12:85249784-85249785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539845939	chr12:85249852-85249853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561509924	chr12:85249863-85249864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143536626	chr12:85249867-85249868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368529258	chr12:85249923-85249924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564221394	chr12:85250006-85250007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532997841	chr12:85250012-85250013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550446096	chr12:85250022-85250023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148029172	chr12:85250037-85250038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189438979	chr12:85250071-85250072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141807239	chr12:85250122-85250123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74648050	chr12:85250128-85250129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146028288	chr12:85250150-85250151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547061099	chr12:85250153-85250154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182036994	chr12:85250162-85250163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536187045	chr12:85250166-85250167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557658581	chr12:85250171-85250172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575816170	chr12:85250202-85250203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563311880	chr12:85250203-85250204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540036143	chr12:85250205-85250206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76835769	chr12:85250225-85250226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572941302	chr12:85250242-85250243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539930893	chr12:85250261-85250262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7296673	chr12:85250263-85250264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186015109	chr12:85250312-85250313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543777344	chr12:85250323-85250324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138838368	chr12:85250350-85250351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533036513	chr12:85250393-85250394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77967849	chr12:85250403-85250404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560083469	chr12:85250460-85250461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85243000-85250200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:85249600-85251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:85249600-85251000	Enhancers	NHEK	skin
4	chr12:85249800-85252200	Enhancers	HMEC	breast
5	chr12:85250000-85271400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:85250200-85250600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:85250200-85250600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:85250200-85251000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:85250200-85251400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:85250400-85250600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:85250400-85250600	Enhancers	NHDF-Ad	bronchial
12	chr12:85250400-85251200	Enhancers	Esophagus	oesophagus
13	chr12:85250400-85251600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:85250600-85250800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:85250600-85251800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:85250600-85264400	Weak transcription	NHDF-Ad	bronchial
17	chr12:85250800-85251400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:85251000-85251400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:85251000-85251600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:85251000-85303000	Weak transcription	NHEK	skin
21	chr12:85251200-85251400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:85251400-85251600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:85251400-85251600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:85251400-85252000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:85251400-85255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:85251400-85256800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:85251600-85251800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:85251600-85255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:85251600-85267200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:85251800-85257600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:85251800-85285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:85252000-85255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:85252000-85263400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:85252200-85254000	Weak transcription	HMEC	breast
35	chr12:85253800-85271200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:85254000-85257200	Strong transcription	HMEC	breast
37	chr12:85254000-85276800	Weak transcription	Fetal Brain Male	brain
38	chr12:85254000-85289800	Weak transcription	Brain Angular Gyrus	brain
39	chr12:85254600-85270600	Weak transcription	Brain Substantia Nigra	brain
40	chr12:85254800-85271200	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:85255000-85257600	Weak transcription	Brain Germinal Matrix	brain
42	chr12:85255200-85260400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:85255400-85257000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:85255400-85284200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:85256800-85257400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:85257000-85258800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:85257200-85258600	Weak transcription	HMEC	breast
48	chr12:85257200-85268000	Weak transcription	Hela-S3	cervix
49	chr12:85257400-85258000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:85257400-85268800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links