Variant report

Variant	esv3334993
Chromosome Location	chr7:55788858-55790906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563889154	chr7:55790403-55790404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370415197	chr7:55790443-55790444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375172526	chr7:55790486-55790487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569334162	chr7:55790515-55790516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4947523	chr7:55790528-55790529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575839717	chr7:55790563-55790564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543262725	chr7:55790564-55790565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58639632	chr7:55790579-55790580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs3109422	chr7:55790582-55790583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530303616	chr7:55790595-55790596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3110938	chr7:55790604-55790605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs547047297	chr7:55790637-55790638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186876250	chr7:55790680-55790681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533413864	chr7:55790681-55790682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539361684	chr7:55790740-55790741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551050908	chr7:55790761-55790762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552061491	chr7:55790795-55790796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570402059	chr7:55790808-55790809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537637467	chr7:55790811-55790812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374863198	chr7:55790814-55790815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3110939	chr7:55790821-55790822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3110940	chr7:55790822-55790823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567746618	chr7:55790826-55790827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535132719	chr7:55790831-55790832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3110941	chr7:55790834-55790835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553062268	chr7:55790856-55790857	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
Glioblastoma multiforme	21569311	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55790400-55791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:55790400-55791800	Enhancers	HepG2	liver

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