Variant report

Variant	esv3444754
Chromosome Location	chr7:55808458-55813056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 369 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551579248	chr7:55808458-55808459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184563267	chr7:55808467-55808468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530798777	chr7:55808470-55808471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548984940	chr7:55808471-55808472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567988541	chr7:55808480-55808481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190276756	chr7:55808481-55808482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181684524	chr7:55808485-55808486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527865056	chr7:55808495-55808496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35945882	chr7:55808517-55808518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs562672692	chr7:55808529-55808530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569747249	chr7:55808541-55808542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537016321	chr7:55808542-55808543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375065232	chr7:55808572-55808573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184332567	chr7:55808577-55808578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574342162	chr7:55808585-55808586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189441600	chr7:55808594-55808595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553674047	chr7:55808649-55808650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142580659	chr7:55808713-55808714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545620182	chr7:55808714-55808715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375393676	chr7:55808728-55808729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563600610	chr7:55808729-55808730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530935601	chr7:55808730-55808731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181833992	chr7:55808740-55808741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560957722	chr7:55808743-55808744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528508780	chr7:55808763-55808764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547372014	chr7:55808784-55808785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150615468	chr7:55808793-55808794	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs34458430	chr7:55808805-55808806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs551574489	chr7:55808807-55808808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569601630	chr7:55808830-55808831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537151146	chr7:55808838-55808839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555538888	chr7:55808867-55808868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567265701	chr7:55808868-55808869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185154602	chr7:55808876-55808877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546747298	chr7:55808897-55808898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578210453	chr7:55808898-55808899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545247458	chr7:55808928-55808929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557536224	chr7:55808935-55808936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199970097	chr7:55808943-55808944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61187951	chr7:55808945-55808946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149380718	chr7:55808969-55808970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190590121	chr7:55808974-55808975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375366764	chr7:55808976-55808977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528446150	chr7:55809006-55809007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557418671	chr7:55809035-55809036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554225898	chr7:55809039-55809040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540658173	chr7:55809110-55809111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12671710	chr7:55809125-55809126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs533259933	chr7:55809131-55809132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551245369	chr7:55809143-55809144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Cancer	20164919	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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