Variant report

Variant	esv1809246
Chromosome Location	chr7:55790607-55792816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547047297	chr7:55790637-55790638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186876250	chr7:55790680-55790681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533413864	chr7:55790681-55790682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539361684	chr7:55790740-55790741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551050908	chr7:55790761-55790762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552061491	chr7:55790795-55790796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570402059	chr7:55790808-55790809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537637467	chr7:55790811-55790812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374863198	chr7:55790814-55790815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3110939	chr7:55790821-55790822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3110940	chr7:55790822-55790823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567746618	chr7:55790826-55790827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535132719	chr7:55790831-55790832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3110941	chr7:55790834-55790835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553062268	chr7:55790856-55790857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577970771	chr7:55790968-55790969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80227194	chr7:55790980-55790981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571225775	chr7:55790996-55790997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201782140	chr7:55791017-55791018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62456598	chr7:55791019-55791020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200400108	chr7:55791021-55791022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62456600	chr7:55791046-55791047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543199711	chr7:55791075-55791076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62456601	chr7:55791153-55791154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573626673	chr7:55791171-55791172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375676442	chr7:55791257-55791258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192071321	chr7:55791271-55791272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183114454	chr7:55791313-55791314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567049563	chr7:55791353-55791354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71547953	chr7:55791425-55791426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs66951731	chr7:55791436-55791437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71547954	chr7:55791452-55791453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531266107	chr7:55791467-55791468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58262372	chr7:55791483-55791484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552662496	chr7:55791546-55791547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62456602	chr7:55791572-55791573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528527770	chr7:55791588-55791589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547078571	chr7:55791589-55791590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571688880	chr7:55791605-55791606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539003680	chr7:55791609-55791610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149585447	chr7:55791615-55791616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371943044	chr7:55791657-55791658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545289015	chr7:55791668-55791669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569582163	chr7:55791674-55791675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375240157	chr7:55791712-55791713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185151904	chr7:55791781-55791782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189523455	chr7:55791785-55791786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116009803	chr7:55791806-55791807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182549758	chr7:55791820-55791821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113000419	chr7:55791894-55791895	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:10 , 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
3	chr7:55791000-55791600	Enhancers	Fetal Kidney	kidney
4	chr7:55791000-55791800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:55791400-55791800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:55791400-55791800	Enhancers	Fetal Muscle Trunk	muscle
7	chr7:55791400-55791800	Enhancers	Fetal Muscle Leg	muscle
8	chr7:55791400-55791800	Enhancers	Ovary	ovary
9	chr7:55791400-55792000	Enhancers	Fetal Lung	lung
10	chr7:55791400-55792000	Enhancers	Fetal Stomach	stomach

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