Variant report

Variant	esv3427107
Chromosome Location	chr7:38609727-38612125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546574743	chr7:38609752-38609753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566797335	chr7:38609754-38609755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538903623	chr7:38609766-38609767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145721000	chr7:38609821-38609822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9639802	chr7:38609830-38609831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189539651	chr7:38609904-38609905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10269961	chr7:38609945-38609946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574002633	chr7:38609998-38609999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116279150	chr7:38610002-38610003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552914656	chr7:38610003-38610004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572885811	chr7:38610005-38610006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148998292	chr7:38610010-38610011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565434565	chr7:38610017-38610018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531172921	chr7:38610054-38610055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142979979	chr7:38610110-38610111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561043191	chr7:38610137-38610138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76042592	chr7:38610138-38610139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151077231	chr7:38610201-38610202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546636288	chr7:38610234-38610235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12535947	chr7:38610296-38610297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568492753	chr7:38610303-38610304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34570683	chr7:38610304-38610305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200048922	chr7:38610313-38610314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370089175	chr7:38610314-38610315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141373809	chr7:38610428-38610429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369721153	chr7:38610457-38610458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563322764	chr7:38610461-38610462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575880904	chr7:38610491-38610492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75515302	chr7:38610504-38610505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377163201	chr7:38610527-38610528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368178014	chr7:38610535-38610536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369998126	chr7:38610542-38610543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372756619	chr7:38610544-38610545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543291122	chr7:38610545-38610546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377191800	chr7:38610555-38610556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371496952	chr7:38610558-38610559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369035259	chr7:38610571-38610572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376500070	chr7:38610579-38610580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371889054	chr7:38610582-38610583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374855156	chr7:38610583-38610584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369590269	chr7:38610586-38610587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372724087	chr7:38610587-38610588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376233070	chr7:38610594-38610595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369454616	chr7:38610595-38610596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373489682	chr7:38610598-38610599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376517658	chr7:38610599-38610600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538055007	chr7:38610600-38610601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371033201	chr7:38610601-38610602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374526784	chr7:38610621-38610622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369230854	chr7:38610624-38610625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38608400-38634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:38609800-38610200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:38609800-38610400	Enhancers	Fetal Heart	heart
4	chr7:38610200-38613800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:38610400-38611600	Weak transcription	Fetal Heart	heart
6	chr7:38611600-38612800	Enhancers	Fetal Heart	heart

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