Variant report

Variant	esv3336527
Chromosome Location	chr7:13408622-13409189
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	chr7:13404337..13406494-chr7:13407462..13410168,2	K562	blood:

Variant related genes	Relation type
ENSG00000237713	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368777474	chr7:13408664-13408665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533844133	chr7:13408677-13408678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554074111	chr7:13408688-13408689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1583254	chr7:13408727-13408728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570536257	chr7:13408755-13408756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73068618	chr7:13408771-13408772	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550476727	chr7:13408772-13408773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1583255	chr7:13408774-13408775	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78423344	chr7:13408813-13408814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190127000	chr7:13408892-13408893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542558766	chr7:13408911-13408912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574821884	chr7:13408924-13408925	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567349035	chr7:13408931-13408932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374566332	chr7:13408944-13408945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2568585	chr7:13408953-13408954	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2568586	chr7:13408995-13408996	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577489215	chr7:13409004-13409005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545953494	chr7:13409009-13409010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562754244	chr7:13409021-13409022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531261789	chr7:13409022-13409023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569684099	chr7:13409023-13409024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149749601	chr7:13409026-13409027	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375332801	chr7:13409060-13409061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528974420	chr7:13409065-13409066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376376948	chr7:13409068-13409069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193066323	chr7:13409073-13409074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527313862	chr7:13409077-13409078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547351545	chr7:13409080-13409081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185070659	chr7:13409096-13409097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373429515	chr7:13409102-13409103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549961514	chr7:13409105-13409106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569868796	chr7:13409109-13409110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188747892	chr7:13409155-13409156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112039614	chr7:13409173-13409174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34823146	chr7:13409178-13409179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	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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