Variant report

Variant	esv3503535
Chromosome Location	chr7:57914091-57927410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 349 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200613919	chr7:57917418-57917419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78740516	chr7:57917422-57917423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199498631	chr7:57917431-57917432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200838360	chr7:57917445-57917446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201820555	chr7:57917446-57917447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200196807	chr7:57917456-57917457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536277852	chr7:57917472-57917473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75346636	chr7:57917475-57917476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112051334	chr7:57917497-57917498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111690380	chr7:57917500-57917501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201039629	chr7:57917506-57917507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202182707	chr7:57917510-57917511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112373373	chr7:57917521-57917522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534463229	chr7:57917524-57917525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201196240	chr7:57917549-57917550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202050615	chr7:57917555-57917556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559198646	chr7:57917556-57917557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200240963	chr7:57917559-57917560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577485211	chr7:57917564-57917565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368036503	chr7:57917566-57917567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112676906	chr7:57917581-57917582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28401692	chr7:57917611-57917612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113820786	chr7:57917613-57917614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9718886	chr7:57917620-57917621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2128843	chr7:57917636-57917637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370116646	chr7:57917642-57917643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560087446	chr7:57917644-57917645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184719513	chr7:57917647-57917648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188648338	chr7:57917662-57917663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201494792	chr7:57917689-57917690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199709619	chr7:57917721-57917722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75379254	chr7:57917740-57917741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531096269	chr7:57917741-57917742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369493575	chr7:57917742-57917743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545662095	chr7:57917753-57917754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563953469	chr7:57917756-57917757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200363285	chr7:57917762-57917763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181423712	chr7:57917778-57917779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369413962	chr7:57917783-57917784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373180958	chr7:57917791-57917792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201647788	chr7:57917796-57917797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543191170	chr7:57917797-57917798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369629750	chr7:57917809-57917810	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189475588	chr7:57917812-57917813	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201359338	chr7:57917814-57917815	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200249302	chr7:57917820-57917821	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs370378175	chr7:57917869-57917870	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs117044304	chr7:57917875-57917876	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs373440735	chr7:57917878-57917879	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376132827	chr7:57917887-57917888	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57917400-57918000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:57917800-57918400	Active TSS	Fetal Heart	heart
3	chr7:57918200-57918400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
4	chr7:57918200-57918800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:57925000-57925400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr7:57925400-57927000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:57927000-57927200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr7:57927000-57927600	Active TSS	Liver	Liver
9	chr7:57927000-57927800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr7:57927000-57928200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:57927400-57927800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
12	chr7:57927400-57929200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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