Variant report

Variant	nsv975042
Chromosome Location	chr10:58983440-58986435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58981686..58984044-chr10:59073048..59074981,2	MCF-7	breast:
2	chr10:58983000..58985770-chr10:58990490..58992498,2	K562	blood:
3	chr10:58978500..58980701-chr10:58984657..58986549,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567939443	chr10:58983464-58983465	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535510828	chr10:58983469-58983470	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10740697	chr10:58983529-58983530	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575731834	chr10:58983624-58983625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188697970	chr10:58983643-58983644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180779738	chr10:58983661-58983662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186191939	chr10:58983807-58983808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191869012	chr10:58983831-58983832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12244644	chr10:58983964-58983965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529512012	chr10:58983991-58983992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7077365	chr10:58984011-58984012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541109497	chr10:58984096-58984097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370898175	chr10:58984098-58984099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563234966	chr10:58984121-58984122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184108476	chr10:58984159-58984160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551871665	chr10:58984172-58984173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570444007	chr10:58984185-58984186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574427863	chr10:58984218-58984219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528344715	chr10:58984221-58984222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117473362	chr10:58984243-58984244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567876141	chr10:58984249-58984250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370398599	chr10:58984282-58984283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578206442	chr10:58984293-58984294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142684414	chr10:58984337-58984338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550796655	chr10:58984358-58984359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186581884	chr10:58984385-58984386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150714904	chr10:58984400-58984401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539954166	chr10:58984403-58984404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147654075	chr10:58984434-58984435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573295912	chr10:58984444-58984445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191887245	chr10:58984501-58984502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556104283	chr10:58984536-58984537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183200523	chr10:58984576-58984577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544457698	chr10:58984586-58984587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563132522	chr10:58984617-58984618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142145444	chr10:58984628-58984629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545908303	chr10:58984685-58984686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11819692	chr10:58984706-58984707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545314562	chr10:58984712-58984713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563693390	chr10:58984731-58984732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563502706	chr10:58984740-58984741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528087897	chr10:58984807-58984808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187127741	chr10:58984854-58984855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561642291	chr10:58984880-58984881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529212166	chr10:58984889-58984890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371549740	chr10:58984910-58984911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368060455	chr10:58984947-58984948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550485699	chr10:58985046-58985047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569047785	chr10:58985047-58985048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111873723	chr10:58985050-58985051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58982400-58984400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:58982600-58984800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:58982600-58985000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr10:58983000-58984800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:58983000-58985400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr10:58983200-58985200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr10:58983200-58986200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr10:58983200-58986400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:58983200-58986600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:58983400-58983600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:58983600-58985200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:58984400-58984600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr10:58984400-58985800	Enhancers	Rectal Smooth Muscle	rectum
14	chr10:58984600-58986200	Enhancers	Colon Smooth Muscle	Colon
15	chr10:58984800-58985200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr10:58984800-58986600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:58985000-58987000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:58985200-58986000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr10:58985200-58987200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:58985400-58985800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr10:58985800-58986000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr10:58986000-58986200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr10:58986000-58987000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:58986200-58987400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:58986200-58987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:58986400-58987200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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