Variant report

Variant	nsv1023586
Chromosome Location	chr8:58196496-58224081
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	CUX1	chr8:58215583-58215686	GM12878	blood:	n/a	n/a
2	FAM48A	chr8:58200090-58200184	GM12878	blood:	n/a	n/a
3	FAM48A	chr8:58217211-58217234	GM12878	blood:	n/a	n/a
4	FOS	chr8:58198784-58199232	MCF10A-Er-Src	breast:	n/a	chr8:58198941-58198952 chr8:58198943-58198951
5	FOS	chr8:58198795-58199140	HUVEC	blood vessel:	n/a	chr8:58198941-58198952 chr8:58198943-58198951
6	FOS	chr8:58198807-58199395	MCF10A-Er-Src	breast:	n/a	chr8:58198941-58198952 chr8:58198943-58198951
7	FOS	chr8:58223336-58223602	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr8:58198807-58199139	MCF10A-Er-Src	breast:	n/a	chr8:58198941-58198952 chr8:58198943-58198951
9	FOS	chr8:58198751-58199115	MCF10A-Er-Src	breast:	n/a	chr8:58198941-58198952 chr8:58198943-58198951
10	FOS	chr8:58201753-58201790	MCF10A-Er-Src	breast:	n/a	chr8:58201778-58201786 chr8:58201778-58201785 chr8:58201776-58201788 chr8:58201778-58201787
11	FOS	chr8:58201441-58201490	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr8:58200899-58201411	HUVEC	blood vessel:	n/a	n/a
13	GATA2	chr8:58200938-58201396	HUVEC	blood vessel:	n/a	n/a
14	GATA3	chr8:58218974-58219129	SH-SY5Y	brain:	n/a	n/a
15	IRF1	chr8:58219397-58219405	K562	blood:	n/a	n/a
16	JUND	chr8:58201723-58201815	HepG2	liver:	n/a	chr8:58201778-58201786 chr8:58201778-58201785 chr8:58201776-58201787 chr8:58201776-58201788 chr8:58201778-58201787
17	JUND	chr8:58207699-58207898	HepG2	liver:	n/a	n/a
18	MAFF	chr8:58218143-58218370	HepG2	liver:	n/a	chr8:58218269-58218287
19	MAFF	chr8:58212358-58212571	HepG2	liver:	n/a	n/a
20	MAFF	chr8:58223664-58223667	HepG2	liver:	n/a	n/a
21	MAFK	chr8:58212356-58212689	HepG2	liver:	n/a	chr8:58212535-58212550
22	MAFK	chr8:58218137-58218398	IMR90	lung:	n/a	chr8:58218272-58218283 chr8:58218270-58218284 chr8:58218272-58218283 chr8:58218271-58218282 chr8:58218271-58218282 chr8:58218271-58218287
23	MAFK	chr8:58212357-58212619	HepG2	liver:	n/a	chr8:58212535-58212550
24	MAFK	chr8:58218132-58218435	HepG2	liver:	n/a	chr8:58218272-58218283 chr8:58218270-58218284 chr8:58218272-58218283 chr8:58218271-58218282 chr8:58218271-58218282 chr8:58218271-58218287
25	MAX	chr8:58210821-58211137	Hela-S3	cervix:	n/a	chr8:58211028-58211038
26	MAX	chr8:58210986-58211134	HepG2	liver:	n/a	chr8:58211028-58211038
27	MAX	chr8:58211893-58212071	NB4	blood:	n/a	chr8:58211979-58211989
28	MAX	chr8:58210936-58211139	NB4	blood:	n/a	chr8:58211028-58211038
29	MAZ	chr8:58216461-58216500	HepG2	liver:	n/a	n/a
30	MYC	chr8:58223374-58224136	MCF10A-Er-Src	breast:	n/a	chr8:58223784-58223797 chr8:58224059-58224068
31	MYC	chr8:58216262-58216287	NB4	blood:	n/a	n/a
32	POLR2A	chr8:58203219-58203278	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:58200268-58200317	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr8:58198773-58199489	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr8:58219881-58220008	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr8:58211034-58211036	Gliobla	brain:	n/a	n/a
37	POLR2A	chr8:58211228-58211247	Gliobla	brain:	n/a	n/a
38	POLR2A	chr8:58207716-58207791	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr8:58220577-58220633	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr8:58199011-58199501	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr8:58213702-58213729	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:58223575-58223983	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr8:58215007-58215207	MCF10A-Er-Src	breast:	n/a	n/a
44	RFX5	chr8:58201616-58201967	HepG2	liver:	n/a	chr8:58201811-58201826
45	RFX5	chr8:58201631-58201941	Hela-S3	cervix:	n/a	chr8:58201811-58201826
46	RFX5	chr8:58201614-58201922	K562	blood:	n/a	chr8:58201811-58201826
47	SPI1	chr8:58205388-58205497	K562	blood:	n/a	n/a
48	SPI1	chr8:58205339-58205532	K562	blood:	n/a	n/a
49	STAT3	chr8:58201002-58201184	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr8:58198833-58199141	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58190918..58193705-chr8:58197368..58198890,2	K562	blood:

Variant related genes	Relation type
RNU6-596P	TF binding region
ENSG00000215117	chromatin interactions

Extended variants
information (count: 806 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578190396	chr8:58196801-58196802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528704990	chr8:58196820-58196821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147472129	chr8:58196821-58196822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570969693	chr8:58196830-58196831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139299949	chr8:58196861-58196862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544161887	chr8:58196869-58196870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550277904	chr8:58196883-58196884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567268291	chr8:58196900-58196901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150021530	chr8:58196909-58196910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553261761	chr8:58196960-58196961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566670257	chr8:58196969-58196970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538878046	chr8:58197018-58197019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56130194	chr8:58197061-58197062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113916847	chr8:58197067-58197068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183907981	chr8:58197119-58197120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10504230	chr8:58197150-58197151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs373043826	chr8:58197151-58197152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542708685	chr8:58197161-58197162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574005075	chr8:58197167-58197168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35020358	chr8:58197188-58197189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545150510	chr8:58197371-58197372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145553194	chr8:58197387-58197388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530486641	chr8:58197409-58197410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs74800938	chr8:58197418-58197419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564766290	chr8:58197428-58197429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556524674	chr8:58197429-58197430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148885563	chr8:58197446-58197447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111728426	chr8:58197463-58197464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567130290	chr8:58197487-58197488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115773028	chr8:58197493-58197494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546569106	chr8:58197520-58197521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566732353	chr8:58197525-58197526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188295560	chr8:58197583-58197584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116185520	chr8:58197617-58197618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10094210	chr8:58197618-58197619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537125399	chr8:58197632-58197633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140752337	chr8:58197635-58197636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140173717	chr8:58197675-58197676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550485691	chr8:58197676-58197677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs180813693	chr8:58197699-58197700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567091466	chr8:58197826-58197827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552951635	chr8:58197832-58197833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573171927	chr8:58197844-58197845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545310086	chr8:58197847-58197848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529850748	chr8:58197854-58197855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186447888	chr8:58197901-58197902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549020124	chr8:58197906-58197907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574871152	chr8:58197971-58197972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566853901	chr8:58198033-58198034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115126443	chr8:58198068-58198069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58196800-58197200	Enhancers	Fetal Brain Female	brain
2	chr8:58197000-58197200	Enhancers	Fetal Lung	lung
3	chr8:58198200-58199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:58198400-58199200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:58198600-58199400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:58198600-58199400	Enhancers	HSMM	muscle
7	chr8:58198800-58199400	Enhancers	NHDF-Ad	bronchial
8	chr8:58199400-58201000	Weak transcription	NHDF-Ad	bronchial
9	chr8:58199600-58200600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:58200600-58202000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:58201000-58201800	Enhancers	HUVEC	blood vessel
12	chr8:58201000-58202000	Enhancers	NHDF-Ad	bronchial
13	chr8:58201200-58201800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:58210000-58213400	Enhancers	Fetal Muscle Leg	muscle
15	chr8:58210600-58210800	Enhancers	Aorta	Aorta
16	chr8:58210600-58211000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:58210800-58211000	Enhancers	HSMMtube	muscle
18	chr8:58210800-58211200	Enhancers	Adipose Nuclei	Adipose
19	chr8:58210800-58211200	Active TSS	Aorta	Aorta
20	chr8:58211000-58211200	Enhancers	NHDF-Ad	bronchial
21	chr8:58211000-58211400	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:58211000-58211400	Enhancers	Pancreas	Pancrea
23	chr8:58211000-58211400	Enhancers	Right Atrium	heart
24	chr8:58211000-58211400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr8:58211000-58211400	Bivalent Enhancer	HSMMtube	muscle
26	chr8:58211200-58212200	Weak transcription	Aorta	Aorta
27	chr8:58212200-58213600	Enhancers	Aorta	Aorta
28	chr8:58213200-58214200	Enhancers	HSMM	muscle
29	chr8:58213200-58214200	Enhancers	HSMMtube	muscle
30	chr8:58213400-58217200	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:58213600-58214000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:58217200-58217800	Enhancers	Fetal Muscle Leg	muscle
33	chr8:58217600-58217800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:58217800-58220800	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:58218800-58220200	Enhancers	Fetal Lung	lung
36	chr8:58219000-58220400	Enhancers	Ovary	ovary
37	chr8:58219200-58220200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:58219600-58220000	Enhancers	Adipose Nuclei	Adipose
39	chr8:58219800-58220600	Enhancers	Fetal Stomach	stomach
40	chr8:58220000-58223400	Weak transcription	Adipose Nuclei	Adipose
41	chr8:58220200-58222800	Weak transcription	Fetal Lung	lung
42	chr8:58220800-58221400	Enhancers	Fetal Muscle Leg	muscle
43	chr8:58221400-58222600	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:58222600-58223000	Enhancers	Fetal Muscle Leg	muscle
45	chr8:58222800-58224800	Enhancers	Fetal Lung	lung
46	chr8:58223000-58224600	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:58223400-58224200	Enhancers	Adipose Nuclei	Adipose

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