Variant report

Variant	esv20179
Chromosome Location	chr7:55808883-55812203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 287 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546747298	chr7:55808897-55808898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578210453	chr7:55808898-55808899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545247458	chr7:55808928-55808929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557536224	chr7:55808935-55808936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199970097	chr7:55808943-55808944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61187951	chr7:55808945-55808946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149380718	chr7:55808969-55808970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190590121	chr7:55808974-55808975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375366764	chr7:55808976-55808977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528446150	chr7:55809006-55809007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557418671	chr7:55809035-55809036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554225898	chr7:55809039-55809040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540658173	chr7:55809110-55809111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12671710	chr7:55809125-55809126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533259933	chr7:55809131-55809132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551245369	chr7:55809143-55809144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533735325	chr7:55809159-55809160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530771360	chr7:55809160-55809161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28609828	chr7:55809174-55809175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549076476	chr7:55809203-55809204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567400228	chr7:55809216-55809217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534563444	chr7:55809221-55809222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546600062	chr7:55809225-55809226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571803996	chr7:55809227-55809228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539330833	chr7:55809228-55809229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557410876	chr7:55809283-55809284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372064363	chr7:55809292-55809293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377007884	chr7:55809304-55809305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139599002	chr7:55809314-55809315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374302850	chr7:55809317-55809318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536477990	chr7:55809319-55809320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377220283	chr7:55809320-55809321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554629522	chr7:55809330-55809331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573021650	chr7:55809336-55809337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540215130	chr7:55809337-55809338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369084321	chr7:55809380-55809381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10273914	chr7:55809399-55809400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565291045	chr7:55809430-55809431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373003900	chr7:55809468-55809469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573813764	chr7:55809477-55809478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577208174	chr7:55809479-55809480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75458298	chr7:55809482-55809483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545282838	chr7:55809511-55809512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563599876	chr7:55809520-55809521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79059565	chr7:55809523-55809524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79187880	chr7:55809525-55809526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530707185	chr7:55809529-55809530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181395301	chr7:55809554-55809555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560940248	chr7:55809570-55809571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528194655	chr7:55809580-55809581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	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
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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	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	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	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
Glioblastoma multiforme	19115005	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55806800-55814800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:55809400-55809600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:55809600-55810200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:55810200-55811000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:55811000-55811200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:55811000-55811200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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