Variant report

Variant	esv33955
Chromosome Location	chr22:31785998-31788940
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	chr22:31784063..31789675-chr22:31793262..31796684,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185721	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58755121	chr22:31786054-31786055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs398036877	chr22:31786074-31786075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74329214	chr22:31786075-31786076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551750367	chr22:31786090-31786091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113547905	chr22:31786143-31786144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188680544	chr22:31786211-31786212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549374529	chr22:31786216-31786217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs180696153	chr22:31786314-31786315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186009424	chr22:31786451-31786452	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140849189	chr22:31786472-31786473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs58856347	chr22:31786511-31786512	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534194093	chr22:31786518-31786519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559181181	chr22:31786534-31786535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568376537	chr22:31786574-31786575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531067831	chr22:31786584-31786585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369438635	chr22:31786615-31786616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550865448	chr22:31786678-31786679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570854581	chr22:31786679-31786680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539637180	chr22:31786706-31786707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28523714	chr22:31786776-31786777	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs190530025	chr22:31786825-31786826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534442417	chr22:31786854-31786855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115085119	chr22:31786855-31786856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs5753593	chr22:31786860-31786861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369971211	chr22:31786866-31786867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368706622	chr22:31786867-31786868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11351101	chr22:31786872-31786873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs398036878	chr22:31786896-31786897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs5753594	chr22:31786898-31786899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147922117	chr22:31786919-31786920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs8138596	chr22:31786961-31786962	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs557291877	chr22:31786962-31786963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577253231	chr22:31787001-31787002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545965221	chr22:31787028-31787029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182237625	chr22:31787110-31787111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573250651	chr22:31787183-31787184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541965193	chr22:31787232-31787233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5753595	chr22:31787234-31787235	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547863113	chr22:31787337-31787338	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186913417	chr22:31787338-31787339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564423621	chr22:31787339-31787340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190669761	chr22:31787375-31787376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547144067	chr22:31787389-31787390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566967757	chr22:31787425-31787426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534676096	chr22:31787426-31787427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369237323	chr22:31787431-31787432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs5753596	chr22:31787472-31787473	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs568210325	chr22:31787476-31787477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537037143	chr22:31787505-31787506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557032463	chr22:31787531-31787532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	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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