Variant report

Variant	nsv891350
Chromosome Location	chr8:115088243-115171628
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	chr8:114478442..114479179-chr8:115103168..115103714,3	MCF-7	breast:

Extended variants
information (count: 995 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:995 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7002432	chr8:115088243-115088244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183655121	chr8:115088299-115088300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533494251	chr8:115088324-115088325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139789143	chr8:115088346-115088347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116627109	chr8:115088350-115088351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28393002	chr8:115088367-115088368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555880458	chr8:115088391-115088392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566185474	chr8:115088404-115088405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142960995	chr8:115088420-115088421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150826654	chr8:115088428-115088429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139279844	chr8:115088460-115088461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578083966	chr8:115088503-115088504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543733679	chr8:115088516-115088517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556990475	chr8:115088517-115088518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573852389	chr8:115088518-115088519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150021252	chr8:115088561-115088562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559082506	chr8:115088609-115088610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78198310	chr8:115088623-115088624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544702522	chr8:115088693-115088694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556510068	chr8:115088701-115088702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530412657	chr8:115088716-115088717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376684807	chr8:115088729-115088730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145335324	chr8:115088735-115088736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552703042	chr8:115088796-115088797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529547460	chr8:115088857-115088858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549637480	chr8:115088873-115088874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576076827	chr8:115088892-115088893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60306436	chr8:115088939-115088940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535149705	chr8:115088966-115088967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74654837	chr8:115088978-115088979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189098339	chr8:115089005-115089006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112238458	chr8:115089025-115089026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537072612	chr8:115089078-115089079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76584888	chr8:115089097-115089098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148778817	chr8:115089104-115089105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143822951	chr8:115089111-115089112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10089293	chr8:115089214-115089215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375810280	chr8:115089246-115089247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369712449	chr8:115089341-115089342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372374527	chr8:115089434-115089435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564656150	chr8:115089455-115089456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146868569	chr8:115089467-115089468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543870797	chr8:115089512-115089513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376866079	chr8:115089550-115089551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560928519	chr8:115089595-115089596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12546609	chr8:115089605-115089606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549674673	chr8:115089616-115089617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560022177	chr8:115089618-115089619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528712062	chr8:115089626-115089627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551976434	chr8:115089659-115089660	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115081400-115089200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:115084600-115091000	Enhancers	Dnd41	blood
3	chr8:115086800-115089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:115087000-115089200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:115087600-115089800	Enhancers	Primary T cells from cord blood	blood
6	chr8:115088200-115089200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:115089000-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:115089200-115089600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:115089200-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:115089600-115090000	Enhancers	Fetal Thymus	thymus
13	chr8:115091000-115096200	Weak transcription	Dnd41	blood
14	chr8:115096000-115096800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:115096200-115097600	Enhancers	Dnd41	blood
16	chr8:115096400-115097000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:115096800-115097400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:115097600-115098000	Weak transcription	Dnd41	blood
19	chr8:115098000-115098800	Enhancers	Dnd41	blood
20	chr8:115098800-115102200	Weak transcription	Dnd41	blood
21	chr8:115102200-115103800	Enhancers	Dnd41	blood
22	chr8:115103400-115103600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:115103800-115104200	Weak transcription	Dnd41	blood
24	chr8:115104200-115105000	Enhancers	Dnd41	blood
25	chr8:115105200-115105600	Enhancers	Hela-S3	cervix
26	chr8:115105400-115105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:115105400-115106000	Enhancers	NH-A	brain
28	chr8:115109000-115110000	Enhancers	Dnd41	blood
29	chr8:115112600-115112800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:115112800-115115400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:115115400-115115600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:115115400-115116000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:115115400-115116200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:115115600-115116000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:115116200-115118200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:115118400-115118600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:115118600-115119200	Enhancers	Dnd41	blood
38	chr8:115123400-115124200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:115123600-115124000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:115124000-115124400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:115124400-115124600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:115124600-115126600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:115125400-115125800	Active TSS	A549	lung
44	chr8:115135800-115136400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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