Variant report

Variant	nsv8060
Chromosome Location	chr7:15229228-15236829
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	chr7:15226823..15229745-chr7:16458349..16461149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214960	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533681141	chr7:15229242-15229243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541048452	chr7:15229257-15229258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189544196	chr7:15229274-15229275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563755791	chr7:15229279-15229280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370733270	chr7:15229305-15229306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139212725	chr7:15229319-15229320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549271932	chr7:15229333-15229334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6944932	chr7:15229374-15229375	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142412050	chr7:15229378-15229379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6965149	chr7:15229381-15229382	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543934985	chr7:15229396-15229397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75097077	chr7:15229402-15229403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143030125	chr7:15229430-15229431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536973744	chr7:15229435-15229436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200310328	chr7:15229436-15229437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529298933	chr7:15229466-15229467	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531424830	chr7:15229515-15229516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573795274	chr7:15229517-15229518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6965413	chr7:15229545-15229546	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181601594	chr7:15229637-15229638	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561633803	chr7:15229645-15229646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6945452	chr7:15229699-15229700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568891263	chr7:15229711-15229712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190284752	chr7:15229722-15229723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184659675	chr7:15234413-15234414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189421082	chr7:15234468-15234469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182077341	chr7:15234469-15234470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548987030	chr7:15234471-15234472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536301588	chr7:15234489-15234490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137909679	chr7:15234512-15234513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534648876	chr7:15234524-15234525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115306725	chr7:15234535-15234536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112286124	chr7:15234568-15234569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62448917	chr7:15234571-15234572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116851563	chr7:15234573-15234574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142343843	chr7:15234582-15234583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145980248	chr7:15234588-15234589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542730923	chr7:15234640-15234641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185760549	chr7:15234664-15234665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56210830	chr7:15234671-15234672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114800878	chr7:15234672-15234673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115805557	chr7:15234674-15234675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541399260	chr7:15234690-15234691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572110425	chr7:15234692-15234693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10237122	chr7:15234715-15234716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557692694	chr7:15234765-15234766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73275387	chr7:15234792-15234793	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191065877	chr7:15234794-15234795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563696233	chr7:15234799-15234800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370541111	chr7:15234851-15234852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Bipolar disorder	19114987	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15234400-15234600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:15234400-15235200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr7:15234600-15234800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:15234600-15236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:15235000-15236200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:15235000-15237200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:15235200-15235600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:15236000-15236400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:15236200-15236800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:15236200-15238600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:15236200-15238600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:15236400-15236600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:15236400-15237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:15236600-15237200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:15236600-15237200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:15236600-15238800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:15236800-15237200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:15236800-15238000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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