Variant report

Variant	esv3338595
Chromosome Location	chr12:41794910-41797658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562436374	chr12:41795402-41795403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76905687	chr12:41795420-41795421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547854531	chr12:41795430-41795431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566040508	chr12:41795459-41795460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11180888	chr12:41795469-41795470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551878631	chr12:41795470-41795471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570570883	chr12:41795501-41795502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538079411	chr12:41795503-41795504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556063893	chr12:41795516-41795517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183483463	chr12:41795548-41795549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149485741	chr12:41795561-41795562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562886308	chr12:41795571-41795572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371982950	chr12:41795614-41795615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533349921	chr12:41795642-41795643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112625212	chr12:41795644-41795645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375290066	chr12:41795707-41795708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115772036	chr12:41795756-41795757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545514727	chr12:41795764-41795765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200410620	chr12:41795787-41795788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576038861	chr12:41795841-41795842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544019835	chr12:41795842-41795843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552528677	chr12:41795844-41795845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188575196	chr12:41795848-41795849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112337523	chr12:41795861-41795862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79247586	chr12:41795886-41795887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148105881	chr12:41795892-41795893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192895064	chr12:41795896-41795897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372857706	chr12:41795917-41795918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71434360	chr12:41795918-41795919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56031225	chr12:41795936-41795937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112560932	chr12:41795939-41795940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12300543	chr12:41795944-41795945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71459057	chr12:41795959-41795960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12307386	chr12:41795966-41795967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9668300	chr12:41795971-41795972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55798501	chr12:41795975-41795976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375050864	chr12:41795993-41795994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9668305	chr12:41795994-41795995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9668306	chr12:41795996-41795997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369507359	chr12:41796010-41796011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs66513429	chr12:41796011-41796012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373728405	chr12:41796020-41796021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12300599	chr12:41796021-41796022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55773971	chr12:41796023-41796024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376908907	chr12:41796037-41796038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71434361	chr12:41796038-41796039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200623051	chr12:41796043-41796044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11180889	chr12:41796048-41796049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56171883	chr12:41796049-41796050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56077805	chr12:41796050-41796051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41795400-41795600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:41795600-41796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:41796600-41797000	Active TSS	Brain Anterior Caudate	brain
4	chr12:41796600-41797200	Enhancers	HUVEC	blood vessel
5	chr12:41796600-41797800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:41796800-41797800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:41797000-41797600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:41797000-41797800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:41797000-41798000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:41797000-41798400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:41797000-41800600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:41797200-41797800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:41797600-41798200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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