Variant report

Variant	nsv947578
Chromosome Location	chr10:4159090-4162184
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	chr10:3826233..3829471-chr10:4161588..4164936,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538878611	chr10:4160212-4160213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374761334	chr10:4160241-4160242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549710315	chr10:4160247-4160248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76224609	chr10:4160252-4160253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572695344	chr10:4160261-4160262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564827828	chr10:4160279-4160280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536939942	chr10:4160280-4160281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555074086	chr10:4160285-4160286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181689290	chr10:4160287-4160288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544343500	chr10:4160295-4160296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34963353	chr10:4160318-4160319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562609899	chr10:4160328-4160329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577792056	chr10:4160344-4160345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532405181	chr10:4160358-4160359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117815972	chr10:4160389-4160390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114132063	chr10:4160398-4160399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372077287	chr10:4160402-4160403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377507587	chr10:4160409-4160410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374631483	chr10:4160428-4160429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549212805	chr10:4160456-4160457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1923402	chr10:4160469-4160470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138987749	chr10:4160515-4160516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs723219	chr10:4160551-4160552	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116940344	chr10:4160556-4160557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149907616	chr10:4160618-4160619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569775274	chr10:4160679-4160680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370715823	chr10:4160690-4160691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1923403	chr10:4160744-4160745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs723220	chr10:4160758-4160759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs185771546	chr10:4160766-4160767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555213486	chr10:4160775-4160776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189447887	chr10:4160801-4160802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537869705	chr10:4160802-4160803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556192290	chr10:4160818-4160819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77713061	chr10:4160833-4160834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545085643	chr10:4160874-4160875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77862923	chr10:4160895-4160896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75093486	chr10:4160896-4160897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542573105	chr10:4160924-4160925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144945090	chr10:4160962-4160963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531478411	chr10:4160984-4160985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549806950	chr10:4160993-4160994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77409439	chr10:4161044-4161045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371747981	chr10:4161050-4161051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181773507	chr10:4161059-4161060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566159804	chr10:4161093-4161094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536888599	chr10:4161115-4161116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67637424	chr10:4161125-4161126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34336259	chr10:4161126-4161127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202007495	chr10:4161128-4161129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4160200-4160400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr10:4160200-4160400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr10:4160200-4160600	Enhancers	Duodenum Mucosa	Duodenum
4	chr10:4160200-4160600	Enhancers	Fetal Heart	heart
5	chr10:4160600-4162800	Weak transcription	Fetal Heart	heart
6	chr10:4160600-4163400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr10:4160600-4163600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:4161600-4161800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr10:4161800-4162800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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