Variant report

Variant	esv3395951
Chromosome Location	chr12:85699429-85700682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553396553	chr12:85699436-85699437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574857485	chr12:85699447-85699448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182090888	chr12:85699489-85699490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373391985	chr12:85699534-85699535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556861895	chr12:85699552-85699553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146223566	chr12:85699703-85699704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367764746	chr12:85699704-85699705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73165961	chr12:85699732-85699733	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114755095	chr12:85699743-85699744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7316291	chr12:85699744-85699745	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563771844	chr12:85699784-85699785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374271587	chr12:85699788-85699789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368134254	chr12:85699796-85699797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572292073	chr12:85699837-85699838	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528052945	chr12:85699972-85699973	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576072426	chr12:85699997-85699998	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543572677	chr12:85700023-85700024	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539865340	chr12:85700064-85700065	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561796057	chr12:85700080-85700081	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540883335	chr12:85700117-85700118	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114065042	chr12:85700217-85700218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186067321	chr12:85700246-85700247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577191979	chr12:85700300-85700301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531010490	chr12:85700309-85700310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7980904	chr12:85700320-85700321	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570823716	chr12:85700331-85700332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190480008	chr12:85700399-85700400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143801928	chr12:85700456-85700457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148197229	chr12:85700491-85700492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535568731	chr12:85700531-85700532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557476796	chr12:85700567-85700568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528863355	chr12:85700637-85700638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85698400-85699800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:85698400-85700000	Weak transcription	Hela-S3	cervix
3	chr12:85698400-85703000	Weak transcription	A549	lung
4	chr12:85699400-85699800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:85699400-85699800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:85699400-85700200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:85699400-85700400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:85699400-85700400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:85699400-85700400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:85699800-85700000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:85699800-85700000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:85699800-85700200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:85700000-85700200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:85700000-85702400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:85700200-85700400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:85700400-85703000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links