Variant report

Variant	nsv971683
Chromosome Location	chr8:95364853-95368851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:95365371-95365647	IMR90	lung:	n/a	n/a
2	CEBPB	chr8:95365398-95365664	HepG2	liver:	n/a	n/a
3	CTCF	chr8:95367381-95367445	Fibrobl	skin:	n/a	n/a
4	CTCF	chr8:95368759-95370772	A549	lung:	n/a	chr8:95369486-95369507 chr8:95370133-95370151 chr8:95369492-95369508 chr8:95369491-95369509 chr8:95370135-95370148
5	E2F4	chr8:95368644-95368844	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr8:95365213-95365463	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr8:95365201-95365488	SK-N-SH_RA	brain:	n/a	n/a
8	FOS	chr8:95365359-95365737	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr8:95365414-95365693	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr8:95365414-95365678	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL1	chr8:95365340-95365810	HCT-116	colon:	n/a	n/a
12	FOSL2	chr8:95365305-95365754	A549	lung:	n/a	n/a
13	FOSL2	chr8:95365357-95365620	HepG2	liver:	n/a	n/a
14	FOSL2	chr8:95365414-95365718	A549	lung:	n/a	n/a
15	GATA3	chr8:95368267-95368432	SH-SY5Y	brain:	n/a	n/a
16	JUND	chr8:95365376-95365682	HepG2	liver:	n/a	n/a
17	MYC	chr8:95367369-95367434	MCF-7	breast:	n/a	n/a
18	NR3C1	chr8:95365334-95365724	A549	lung:	n/a	n/a
19	NR3C1	chr8:95365287-95365768	A549	lung:	n/a	n/a
20	NR3C1	chr8:95365363-95365679	A549	lung:	n/a	n/a
21	RFX5	chr8:95365470-95365670	HepG2	liver:	n/a	n/a
22	SMC3	chr8:95368837-95370423	SK-N-SH	brain:	n/a	chr8:95370137-95370144 chr8:95370140-95370148 chr8:95369493-95369507
23	STAT3	chr8:95365413-95365613	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr8:95365413-95365628	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95365546..95367496-chr8:95371194..95372860,2	MCF-7	breast:
2	chr8:95091991..95093563-chr8:95368599..95370272,2	MCF-7	breast:
3	chr8:95091381..95092659-chr8:95368728..95369872,3	K562	blood:
4	chr8:95002556..95005215-chr8:95367344..95369577,2	MCF-7	breast:

Variant related genes	Relation type
RPS4XP10	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567371793	chr8:95364924-95364925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370724833	chr8:95364943-95364944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540586675	chr8:95364945-95364946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193100175	chr8:95364954-95364955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570185221	chr8:95365000-95365001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531225487	chr8:95365012-95365013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200604318	chr8:95365041-95365042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78223409	chr8:95365043-95365044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372563829	chr8:95365045-95365046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56123802	chr8:95365046-95365047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373880891	chr8:95365048-95365049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370018974	chr8:95365092-95365093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185169445	chr8:95365127-95365128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2515164	chr8:95365165-95365166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553791221	chr8:95365214-95365215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573563741	chr8:95365308-95365309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75990875	chr8:95365335-95365336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562660343	chr8:95365338-95365339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576155296	chr8:95365339-95365340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544792131	chr8:95365390-95365391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564767950	chr8:95365463-95365464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187629103	chr8:95365482-95365483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571285765	chr8:95365510-95365511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144133130	chr8:95365532-95365533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76242824	chr8:95365541-95365542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530043612	chr8:95365545-95365546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191704902	chr8:95365565-95365566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570236754	chr8:95365566-95365567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115239994	chr8:95365567-95365568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184338941	chr8:95365573-95365574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188254714	chr8:95365610-95365611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191271000	chr8:95365626-95365627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553905729	chr8:95365660-95365661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184371431	chr8:95365770-95365771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560147467	chr8:95365774-95365775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535881776	chr8:95365778-95365779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556161091	chr8:95365784-95365785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576238376	chr8:95365799-95365800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190534084	chr8:95365800-95365801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6997115	chr8:95365885-95365886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140996659	chr8:95365894-95365895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543339035	chr8:95365936-95365937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561248887	chr8:95365981-95365982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79119526	chr8:95366004-95366005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538301343	chr8:95366009-95366010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182196051	chr8:95366015-95366016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563747073	chr8:95366018-95366019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532843895	chr8:95366032-95366033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552911648	chr8:95366090-95366091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117583634	chr8:95366098-95366099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95355800-95365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:95355800-95365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:95360800-95365600	Weak transcription	A549	lung
4	chr8:95363000-95385200	Weak transcription	Primary T cells from cord blood	blood
5	chr8:95364200-95369000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:95364200-95369400	Weak transcription	NHDF-Ad	bronchial
7	chr8:95364800-95365800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:95364800-95365800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:95364800-95365800	Enhancers	HMEC	breast
10	chr8:95364800-95366000	Enhancers	Fetal Intestine Large	intestine
11	chr8:95364800-95366000	Enhancers	Fetal Intestine Small	intestine
12	chr8:95365000-95365800	Enhancers	NHEK	skin
13	chr8:95365000-95366000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:95365200-95365800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:95365200-95366000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:95365400-95365800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:95365400-95365800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:95365400-95365800	Enhancers	NH-A	brain
19	chr8:95365600-95366000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:95365600-95366000	Enhancers	A549	lung
21	chr8:95365800-95368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:95365800-95369200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:95365800-95369200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:95365800-95369200	Weak transcription	HMEC	breast
25	chr8:95365800-95369600	Weak transcription	NH-A	brain
26	chr8:95365800-95378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:95365800-95385000	Weak transcription	NHEK	skin
28	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:95366000-95369200	Weak transcription	Fetal Intestine Large	intestine
30	chr8:95366000-95369200	Weak transcription	A549	lung
31	chr8:95366000-95369600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:95366000-95372400	Weak transcription	Fetal Intestine Small	intestine
33	chr8:95366000-95375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:95367200-95367400	Enhancers	Aorta	Aorta
35	chr8:95368000-95368200	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links