Variant report

Variant	nsv442032
Chromosome Location	chr7:17093826-17096326
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	chr7:17095846..17098605-chr7:17101734..17104493,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568811848	chr7:17093834-17093835	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17345711	chr7:17093866-17093867	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73680161	chr7:17093868-17093869	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372557206	chr7:17093893-17093894	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201871477	chr7:17093949-17093950	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557508837	chr7:17093960-17093961	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572824278	chr7:17093972-17093973	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184081955	chr7:17094004-17094005	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561734809	chr7:17094059-17094060	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573513714	chr7:17094152-17094153	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374677982	chr7:17094206-17094207	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548323866	chr7:17094251-17094252	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568135558	chr7:17094264-17094265	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562476106	chr7:17094274-17094275	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12671088	chr7:17094278-17094279	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560632034	chr7:17094332-17094333	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144156397	chr7:17094333-17094334	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549363999	chr7:17094361-17094362	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567944427	chr7:17094369-17094370	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148268778	chr7:17094378-17094379	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550133754	chr7:17094379-17094380	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141429558	chr7:17094400-17094401	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538719367	chr7:17094405-17094406	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534396853	chr7:17094425-17094426	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557549041	chr7:17094488-17094489	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150823643	chr7:17094499-17094500	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534099690	chr7:17094507-17094508	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555425250	chr7:17094535-17094536	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74959452	chr7:17094552-17094553	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543890821	chr7:17094562-17094563	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532721869	chr7:17094583-17094584	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60994800	chr7:17094588-17094589	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79953582	chr7:17094623-17094624	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542857	chr7:17094664-17094665	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113335653	chr7:17094665-17094666	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112308560	chr7:17094676-17094677	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76971815	chr7:17094696-17094697	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545083514	chr7:17094708-17094709	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560670173	chr7:17094724-17094725	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527925824	chr7:17094728-17094729	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543196964	chr7:17094739-17094740	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187654879	chr7:17094747-17094748	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557956854	chr7:17094825-17094826	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544530	chr7:17094826-17094827	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571273623	chr7:17094863-17094864	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544638	chr7:17094866-17094867	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75879582	chr7:17094867-17094868	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565835707	chr7:17094871-17094872	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556311356	chr7:17094891-17094892	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576369796	chr7:17094896-17094897	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17089000-17098000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:17093800-17094200	Enhancers	Dnd41	blood
3	chr7:17093800-17095600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:17093800-17095800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:17093800-17097200	Enhancers	HMEC	breast
6	chr7:17093800-17097400	Enhancers	NHEK	skin
7	chr7:17093800-17097600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:17094000-17094200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:17094000-17094200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:17094200-17094400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:17094200-17095200	Weak transcription	Dnd41	blood
12	chr7:17094200-17096600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:17094400-17096800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:17094600-17095200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:17094600-17096400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:17095200-17095400	Enhancers	Dnd41	blood
17	chr7:17095200-17098200	Weak transcription	Aorta	Aorta
18	chr7:17095200-17098600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:17095400-17095800	Weak transcription	Dnd41	blood
20	chr7:17095600-17108800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:17095800-17096200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:17095800-17099200	Enhancers	Dnd41	blood
23	chr7:17096000-17096800	Enhancers	Osteobl	bone
24	chr7:17096000-17097000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:17096200-17096800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:17096200-17096800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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