Variant report

Variant	esv3392474
Chromosome Location	chr3:162784758-162788656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:162781747..162783965-chr3:162788037..162790015,2	MCF-7	breast:
2	chr3:156892021..156894345-chr3:162787273..162789725,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243176	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144544425	chr3:162787281-162787282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558923163	chr3:162787284-162787285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562559564	chr3:162787288-162787289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529853872	chr3:162787301-162787302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368942081	chr3:162787310-162787311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192792740	chr3:162787313-162787314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139342185	chr3:162787362-162787363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7634239	chr3:162787363-162787364	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542442837	chr3:162787460-162787461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7631547	chr3:162787489-162787490	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531451374	chr3:162787514-162787515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551049200	chr3:162787594-162787595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527573128	chr3:162787596-162787597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571224073	chr3:162787611-162787612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527341948	chr3:162787618-162787619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548099204	chr3:162787669-162787670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370710670	chr3:162787722-162787723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555329693	chr3:162787724-162787725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs5854018	chr3:162787738-162787739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs397991520	chr3:162787750-162787751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35524955	chr3:162787758-162787759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373707245	chr3:162787785-162787786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146021698	chr3:162787906-162787907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575550553	chr3:162787945-162787946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544403966	chr3:162787993-162787994	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183715753	chr3:162788000-162788001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569517509	chr3:162788022-162788023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539128569	chr3:162788043-162788044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570405506	chr3:162788065-162788066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7430421	chr3:162788092-162788093	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12637450	chr3:162788108-162788109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572397594	chr3:162788122-162788123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541063089	chr3:162788201-162788202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555351917	chr3:162788213-162788214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188775516	chr3:162788218-162788219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573621835	chr3:162788269-162788270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542379586	chr3:162788276-162788277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562712723	chr3:162788278-162788279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371410162	chr3:162788281-162788282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576007435	chr3:162788310-162788311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545084147	chr3:162788333-162788334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35279737	chr3:162788370-162788371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564869743	chr3:162788389-162788390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191671078	chr3:162788432-162788433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547441655	chr3:162788439-162788440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184580899	chr3:162788494-162788495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530429436	chr3:162788498-162788499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139980036	chr3:162788499-162788500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144180766	chr3:162788549-162788550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538905313	chr3:162788566-162788567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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