Variant report

Variant	esv3419118
Chromosome Location	chr7:5899176-5901524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs565599913	chr7:5899192-5899193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577275710	chr7:5899207-5899208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191511113	chr7:5899270-5899271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545011519	chr7:5899283-5899284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545347565	chr7:5899317-5899318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562794092	chr7:5899322-5899323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530207405	chr7:5899340-5899341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117251144	chr7:5899350-5899351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561119446	chr7:5899375-5899376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542735231	chr7:5899389-5899390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546459663	chr7:5899409-5899410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142522020	chr7:5899414-5899415	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs531936877	chr7:5899422-5899423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550159990	chr7:5899478-5899479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568802289	chr7:5899482-5899483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6978948	chr7:5899508-5899509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148356932	chr7:5899561-5899562	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs183636459	chr7:5899574-5899575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10268625	chr7:5899595-5899596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs36081365	chr7:5899609-5899610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559253799	chr7:5899622-5899623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189348590	chr7:5899650-5899651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544967998	chr7:5899652-5899653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150907968	chr7:5899673-5899674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11308000	chr7:5899689-5899690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193115181	chr7:5899696-5899697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574773297	chr7:5899710-5899711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371513589	chr7:5899712-5899713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185627086	chr7:5899717-5899718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560401639	chr7:5899719-5899720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551832376	chr7:5899756-5899757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112057924	chr7:5899770-5899771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554582075	chr7:5899785-5899786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375458118	chr7:5899828-5899829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368738298	chr7:5899851-5899852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368779228	chr7:5899863-5899864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117660473	chr7:5899876-5899877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564788123	chr7:5899879-5899880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12535764	chr7:5899909-5899910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552942232	chr7:5899945-5899946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550637216	chr7:5899968-5899969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568814233	chr7:5899971-5899972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190112460	chr7:5899985-5899986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145427662	chr7:5899997-5899998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142810220	chr7:5900005-5900006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146084343	chr7:5900014-5900015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201104791	chr7:5900040-5900041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368410582	chr7:5900041-5900042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377074451	chr7:5900042-5900043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115697192	chr7:5900043-5900044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5871400-5904600	Weak transcription	Spleen	Spleen
2	chr7:5889800-5900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:5890000-5924600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:5894600-5901400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:5895400-5938000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:5896000-5899200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:5896600-5899200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:5897400-5899200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:5897400-5899200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:5897400-5899200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr7:5897600-5899200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:5897800-5913400	Weak transcription	Primary T cells from cord blood	blood
13	chr7:5899000-5902400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:5899000-5911200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:5899000-5915800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:5899200-5902400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:5899200-5903800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:5899200-5937400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:5901400-5902200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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