Variant report

Variant	esv3365931
Chromosome Location	chr7:127062476-127062692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127028023..127032462-chr7:127058238..127063116,5	K562	blood:
2	chr7:127030962..127032535-chr7:127059904..127062552,3	K562	blood:

Variant related genes	Relation type
ENSG00000048405	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11772370	chr7:127062487-127062488	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183065784	chr7:127062491-127062492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577973041	chr7:127062492-127062493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376194737	chr7:127062500-127062501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199641351	chr7:127062505-127062506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200765857	chr7:127062506-127062507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373426011	chr7:127062507-127062508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71179577	chr7:127062527-127062528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571814634	chr7:127062550-127062551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570453805	chr7:127062557-127062558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202029926	chr7:127062564-127062565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376831141	chr7:127062572-127062573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534316060	chr7:127062574-127062575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200042354	chr7:127062576-127062577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187757882	chr7:127062580-127062581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201398099	chr7:127062590-127062591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs36138294	chr7:127062591-127062592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568025097	chr7:127062593-127062594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs36195155	chr7:127062598-127062599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs36166929	chr7:127062601-127062602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376287610	chr7:127062602-127062603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138343499	chr7:127062620-127062621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536518358	chr7:127062625-127062626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554569854	chr7:127062666-127062667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199520415	chr7:127062672-127062673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369385944	chr7:127062673-127062674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369491782	chr7:127062674-127062675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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