Variant report

Variant	nsv970469
Chromosome Location	chr7:39906377-39913292
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	chr7:39912850..39915711-chr7:39987458..39990344,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK13-6	chr7:39907545-39907739	NONHSAT120234

Variant related genes	Relation type
ENSG00000259826	chromatin interactions
ENSG00000065883	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533400253	chr7:39907629-39907630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs543893228	chr7:39907652-39907653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs563658856	chr7:39907680-39907681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs529272489	chr7:39907683-39907684	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs111658328	chr7:39909875-39909876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28366502	chr7:39909890-39909891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201770886	chr7:39909939-39909940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189029272	chr7:39909970-39909971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538474917	chr7:39909971-39909972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181462154	chr7:39909984-39909985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150452146	chr7:39909998-39909999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34199836	chr7:39910001-39910002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575632363	chr7:39910021-39910022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368153579	chr7:39910054-39910055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147402252	chr7:39910077-39910078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373757637	chr7:39910093-39910094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529898256	chr7:39910094-39910095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148467730	chr7:39910161-39910162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6979745	chr7:39910183-39910184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151263036	chr7:39910184-39910185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62453048	chr7:39912855-39912856	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368147573	chr7:39912865-39912866	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557743897	chr7:39912978-39912979	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs569588206	chr7:39913013-39913014	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577606450	chr7:39913105-39913106	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs57636105	chr7:39913113-39913114	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192478846	chr7:39913163-39913164	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531927524	chr7:39913183-39913184	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs10951616	chr7:39913272-39913273	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558488754	chr7:39913274-39913275	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39909800-39910200	Enhancers	HUES6 Cell Line	embryonic stem cell

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