Variant report

Variant	nsv887847
Chromosome Location	chr7:25463604-25482619
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	chr7:25466884..25469386-chr7:25471454..25473182,2	K562	blood:
2	chr7:25466884..25469386-chr7:25471454..25473182,2	K562	blood:

Extended variants
information (count: 593 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17151612	chr7:25463604-25463605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538498539	chr7:25463643-25463644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190950364	chr7:25463654-25463655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147293811	chr7:25463661-25463662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578109072	chr7:25463708-25463709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540002461	chr7:25463726-25463727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560184253	chr7:25463791-25463792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148426673	chr7:25463837-25463838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180962544	chr7:25463895-25463896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562441148	chr7:25463902-25463903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78832693	chr7:25463921-25463922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75927824	chr7:25463950-25463951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115114157	chr7:25463962-25463963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556955256	chr7:25463966-25463967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527476870	chr7:25463986-25463987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146107713	chr7:25464009-25464010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185955065	chr7:25464065-25464066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10259101	chr7:25464068-25464069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191232952	chr7:25464097-25464098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1004709	chr7:25464151-25464152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs59666987	chr7:25464179-25464180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs59807505	chr7:25464206-25464207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140186582	chr7:25464215-25464216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143867315	chr7:25464236-25464237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554361100	chr7:25464268-25464269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146793899	chr7:25464301-25464302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573802616	chr7:25464312-25464313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542708767	chr7:25464314-25464315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183085316	chr7:25464340-25464341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139548046	chr7:25464357-25464358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552866772	chr7:25464390-25464391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545021169	chr7:25464392-25464393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7789591	chr7:25464460-25464461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34846135	chr7:25464482-25464483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186963392	chr7:25464549-25464550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374891747	chr7:25464550-25464551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149980142	chr7:25464565-25464566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560720016	chr7:25464589-25464590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145285613	chr7:25464593-25464594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190621973	chr7:25464616-25464617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149164611	chr7:25464685-25464686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143554585	chr7:25464708-25464709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565677067	chr7:25464722-25464723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147605364	chr7:25464734-25464735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182801794	chr7:25464755-25464756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534199857	chr7:25464784-25464785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368020939	chr7:25464801-25464802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61326701	chr7:25464812-25464813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554422417	chr7:25464819-25464820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567843571	chr7:25464829-25464830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Melanoma	18172304	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
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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25460600-25464000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:25463200-25465000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:25463600-25464000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:25463600-25464600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:25463600-25464800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:25463800-25464000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:25463800-25464400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:25463800-25464600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:25464000-25464200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:25464000-25464400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:25464000-25464600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:25464000-25464800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:25464400-25467800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:25464600-25468600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:25464600-25472000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:25464800-25467200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:25464800-25469400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:25465000-25469400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:25467200-25468600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:25467800-25469600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:25468000-25470800	Enhancers	Adipose Nuclei	Adipose
22	chr7:25468200-25469600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:25468400-25468600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:25468400-25469000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:25468400-25469400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:25468600-25468800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:25468600-25468800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:25468600-25469200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:25468600-25469200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:25468800-25469000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:25468800-25469200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:25468800-25469400	Enhancers	Osteobl	bone
33	chr7:25468800-25469600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:25468800-25469600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:25468800-25470200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:25468800-25470400	Enhancers	Ovary	ovary
37	chr7:25468800-25470400	Enhancers	NHDF-Ad	bronchial
38	chr7:25469000-25470400	Enhancers	Liver	Liver
39	chr7:25469000-25471000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:25469200-25469600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:25469200-25469600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:25469200-25469800	Enhancers	HepG2	liver
43	chr7:25469200-25470400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:25469400-25469600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:25469400-25469600	Enhancers	Esophagus	oesophagus
46	chr7:25469400-25469600	Enhancers	Right Atrium	heart
47	chr7:25469400-25469800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:25469400-25469800	Enhancers	Fetal Intestine Small	intestine
49	chr7:25469400-25469800	Enhancers	Left Ventricle	heart
50	chr7:25469400-25469800	Enhancers	Rectal Smooth Muscle	rectum

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