Variant report

Variant	esv3342653
Chromosome Location	chr2:234695638-234698186
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	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
2	chr2:234697940..234699847-chr2:234705586..234707184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224287	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs148469559	chr2:234695642-234695643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372106054	chr2:234695655-234695656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568546355	chr2:234695718-234695719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs367553507	chr2:234695728-234695729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551673052	chr2:234695767-234695768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188540216	chr2:234695773-234695774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559135558	chr2:234695804-234695805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537003686	chr2:234695825-234695826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192281919	chr2:234695917-234695918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144148206	chr2:234695966-234695967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184012811	chr2:234695968-234695969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527989162	chr2:234695969-234695970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs146011757	chr2:234696009-234696010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149271880	chr2:234696053-234696054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572082286	chr2:234696061-234696062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577746032	chr2:234696064-234696065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564470896	chr2:234696070-234696071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10580249	chr2:234696103-234696104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12995326	chr2:234696131-234696132	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545221956	chr2:234696146-234696147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571085206	chr2:234696148-234696149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113532256	chr2:234696155-234696156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116149023	chr2:234696174-234696175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs55809044	chr2:234696198-234696199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187811281	chr2:234696217-234696218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55759818	chr2:234696232-234696233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201166149	chr2:234696233-234696234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71328023	chr2:234696241-234696242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10666934	chr2:234696242-234696243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34303087	chr2:234696250-234696251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560945373	chr2:234696276-234696277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs36048575	chr2:234696293-234696294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs62648948	chr2:234696302-234696303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs62648949	chr2:234696311-234696312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370404374	chr2:234696346-234696347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56217936	chr2:234696352-234696353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565652691	chr2:234696354-234696355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs59213587	chr2:234696372-234696373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183883779	chr2:234696374-234696375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577901068	chr2:234696380-234696381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs59635487	chr2:234696407-234696408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs55676327	chr2:234696433-234696434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559396076	chr2:234696440-234696441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs55856484	chr2:234696445-234696446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573788720	chr2:234696448-234696449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540356209	chr2:234696449-234696450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs55773840	chr2:234696455-234696456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368627523	chr2:234696465-234696466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372258796	chr2:234696473-234696474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12466691	chr2:234696474-234696475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	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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