Variant report

Variant	esv1000586
Chromosome Location	chr10:37616200-37620755
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	chr10:37619963..37622933-chr10:37635085..37637978,2	K562	blood:

Variant related genes	Relation type
ENSG00000236313	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188591562	chr10:37619963-37619964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374569224	chr10:37619966-37619967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12248849	chr10:37619967-37619968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58057863	chr10:37619972-37619973	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555491597	chr10:37619989-37619990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56689957	chr10:37619990-37619991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397965914	chr10:37619994-37619995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567109109	chr10:37620010-37620011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551690358	chr10:37620011-37620012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181040865	chr10:37620052-37620053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369427075	chr10:37620073-37620074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71493770	chr10:37620076-37620077	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139951935	chr10:37620087-37620088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553403663	chr10:37620090-37620091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1200860	chr10:37620101-37620102	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77252958	chr10:37620117-37620118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115535015	chr10:37620131-37620132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577557687	chr10:37620161-37620162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190750006	chr10:37620192-37620193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544562082	chr10:37620414-37620415	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558476407	chr10:37620434-37620435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577920470	chr10:37620440-37620441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182531970	chr10:37620441-37620442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559733990	chr10:37620442-37620443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528929956	chr10:37620445-37620446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542737961	chr10:37620457-37620458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562530306	chr10:37620473-37620474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531578229	chr10:37620487-37620488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61859341	chr10:37620504-37620505	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571470055	chr10:37620514-37620515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377672774	chr10:37620541-37620542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527591576	chr10:37620543-37620544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77321765	chr10:37620595-37620596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566893531	chr10:37620604-37620605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187104364	chr10:37620626-37620627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555864171	chr10:37620633-37620634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573796887	chr10:37620655-37620656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569342279	chr10:37620664-37620665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192168718	chr10:37620692-37620693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35146051	chr10:37620701-37620702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71531288	chr10:37620703-37620704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs397844741	chr10:37620710-37620711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145418406	chr10:37620720-37620721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533730212	chr10:37620753-37620754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147670485	chr10:37620755-37620756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Lung cancer	21569311	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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