Variant report

Variant	esv3414718
Chromosome Location	chr7:71165866-71167964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148802785	chr7:71165869-71165870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557385034	chr7:71165878-71165879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10085425	chr7:71165895-71165896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546221202	chr7:71165899-71165900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142438297	chr7:71165975-71165976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181856269	chr7:71165994-71165995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368757180	chr7:71166007-71166008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187376092	chr7:71166013-71166014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114477197	chr7:71166081-71166082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191772900	chr7:71166158-71166159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541970186	chr7:71166193-71166194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151309449	chr7:71166194-71166195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541409066	chr7:71166210-71166211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542603808	chr7:71166224-71166225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552045676	chr7:71166238-71166239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140540388	chr7:71166313-71166314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181841887	chr7:71166314-71166315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147074588	chr7:71166429-71166430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368536535	chr7:71166450-71166451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2867506	chr7:71166451-71166452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186394963	chr7:71166454-71166455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569469975	chr7:71166459-71166460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545190045	chr7:71166479-71166480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71551218	chr7:71166492-71166493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558469604	chr7:71166596-71166597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573297957	chr7:71166623-71166624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190302717	chr7:71166667-71166668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561228987	chr7:71166672-71166673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528212033	chr7:71166710-71166711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142189362	chr7:71166717-71166718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71089984	chr7:71166720-71166721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555590614	chr7:71166724-71166725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368227322	chr7:71166738-71166739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370707801	chr7:71166739-71166740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59722922	chr7:71166740-71166741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56955020	chr7:71166742-71166743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79223215	chr7:71166744-71166745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80269635	chr7:71166746-71166747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372809483	chr7:71166770-71166771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574034078	chr7:71166776-71166777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551475038	chr7:71166777-71166778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13311484	chr7:71166788-71166789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374371759	chr7:71166793-71166794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71089985	chr7:71166794-71166795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375892740	chr7:71166802-71166803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200365460	chr7:71166813-71166814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201391342	chr7:71166815-71166816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199611391	chr7:71166817-71166818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13311493	chr7:71166826-71166827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377295307	chr7:71166828-71166829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71149600-71170600	Weak transcription	Ovary	ovary
2	chr7:71157600-71176600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:71160200-71170600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:71162400-71168800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:71165200-71177400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:71167800-71168000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:71167800-71168000	Enhancers	HSMMtube	muscle

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