Variant report

Variant	nsv1015850
Chromosome Location	chr8:58208526-58252781
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	CTCF	chr8:58250499-58250576	MCF-7	breast:	n/a	n/a
2	CTCF	chr8:58250480-58250630	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr8:58250320-58250470	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr8:58250456-58250609	HepG2	liver:	n/a	n/a
5	CTCF	chr8:58250491-58250596	MCF-7	breast:	n/a	n/a
6	CTCF	chr8:58250520-58250670	GM12871	blood:	n/a	n/a
7	CTCF	chr8:58250560-58250710	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr8:58250400-58250550	MCF-7	breast:	n/a	n/a
9	CUX1	chr8:58215583-58215686	GM12878	blood:	n/a	n/a
10	EBF1	chr8:58250343-58250672	GM12878	blood:	n/a	chr8:58250513-58250523 chr8:58250511-58250524 chr8:58250513-58250522 chr8:58250512-58250523 chr8:58250513-58250522
11	EBF1	chr8:58250328-58250715	GM12878	blood:	n/a	chr8:58250513-58250523 chr8:58250511-58250524 chr8:58250513-58250522 chr8:58250512-58250523 chr8:58250513-58250522
12	EBF1	chr8:58250358-58250667	GM12878	blood:	n/a	chr8:58250513-58250523 chr8:58250511-58250524 chr8:58250513-58250522 chr8:58250512-58250523 chr8:58250513-58250522
13	FAM48A	chr8:58217211-58217234	GM12878	blood:	n/a	n/a
14	FOS	chr8:58244495-58244848	HUVEC	blood vessel:	n/a	chr8:58244683-58244692
15	FOS	chr8:58251224-58251295	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr8:58251162-58251440	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr8:58223336-58223602	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr8:58251158-58251437	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr8:58241620-58241937	HepG2	liver:	n/a	n/a
20	FOXA2	chr8:58231991-58232304	A549	lung:	n/a	n/a
21	GATA3	chr8:58218974-58219129	SH-SY5Y	brain:	n/a	n/a
22	HNF4A	chr8:58241633-58241860	HepG2	liver:	n/a	n/a
23	IRF1	chr8:58219397-58219405	K562	blood:	n/a	n/a
24	JUND	chr8:58242575-58242762	HepG2	liver:	n/a	n/a
25	MAFF	chr8:58212358-58212571	HepG2	liver:	n/a	n/a
26	MAFF	chr8:58218143-58218370	HepG2	liver:	n/a	chr8:58218269-58218287
27	MAFF	chr8:58223664-58223667	HepG2	liver:	n/a	n/a
28	MAFK	chr8:58230821-58230975	HepG2	liver:	n/a	chr8:58230924-58230935 chr8:58230923-58230934 chr8:58230923-58230934 chr8:58230924-58230935
29	MAFK	chr8:58212356-58212689	HepG2	liver:	n/a	chr8:58212535-58212550
30	MAFK	chr8:58212357-58212619	HepG2	liver:	n/a	chr8:58212535-58212550
31	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
32	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
33	MAX	chr8:58210936-58211139	NB4	blood:	n/a	chr8:58211028-58211038
34	MAX	chr8:58210986-58211134	HepG2	liver:	n/a	chr8:58211028-58211038
35	MAX	chr8:58210821-58211137	Hela-S3	cervix:	n/a	chr8:58211028-58211038
36	MAX	chr8:58252738-58252865	NB4	blood:	n/a	chr8:58252833-58252843
37	MAX	chr8:58211893-58212071	NB4	blood:	n/a	chr8:58211979-58211989
38	MAZ	chr8:58241735-58241816	HepG2	liver:	n/a	n/a
39	MAZ	chr8:58216461-58216500	HepG2	liver:	n/a	n/a
40	MYC	chr8:58223374-58224136	MCF10A-Er-Src	breast:	n/a	chr8:58223784-58223797 chr8:58224059-58224068
41	MYC	chr8:58216262-58216287	NB4	blood:	n/a	n/a
42	NR2F2	chr8:58241491-58241980	HepG2	liver:	n/a	n/a
43	NR2F2	chr8:58241575-58242095	MCF-7	breast:	n/a	n/a
44	NR2F2	chr8:58241554-58242141	HepG2	liver:	n/a	n/a
45	POLR2A	chr8:58245566-58245707	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:58211034-58211036	Gliobla	brain:	n/a	n/a
47	POLR2A	chr8:58219881-58220008	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr8:58248322-58248377	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr8:58228441-58228574	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr8:58220577-58220633	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58248401..58251161-chr8:58254623..58257404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253871	TF binding region
ENSG00000253871	chromatin interactions

Extended variants
information (count: 1504 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1504 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386725809	chr8:58210006-58210007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199861686	chr8:58210007-58210008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540516352	chr8:58210049-58210050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560139228	chr8:58210058-58210059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144158241	chr8:58210063-58210064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115289991	chr8:58210109-58210110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140266476	chr8:58210159-58210160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530899112	chr8:58210173-58210174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144204632	chr8:58210227-58210228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560945458	chr8:58210248-58210249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529997529	chr8:58210258-58210259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377455451	chr8:58210276-58210277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113203871	chr8:58210294-58210295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539340979	chr8:58210340-58210341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552782819	chr8:58210343-58210344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569505851	chr8:58210367-58210368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139549102	chr8:58210380-58210381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562227155	chr8:58210389-58210390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112042872	chr8:58210415-58210416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142578468	chr8:58210425-58210426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151085891	chr8:58210503-58210504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187892067	chr8:58210506-58210507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577043513	chr8:58210550-58210551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527768385	chr8:58210573-58210574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139900020	chr8:58210574-58210575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34523637	chr8:58210603-58210604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35643139	chr8:58210604-58210605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575880884	chr8:58210618-58210619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192170024	chr8:58210620-58210621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185123948	chr8:58210621-58210622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548363699	chr8:58210630-58210631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530228484	chr8:58210652-58210653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189643736	chr8:58210654-58210655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116359286	chr8:58210731-58210732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568670040	chr8:58210762-58210763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527372492	chr8:58210763-58210764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532679125	chr8:58210806-58210807	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs75086115	chr8:58210808-58210809	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570316118	chr8:58210810-58210811	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181179229	chr8:58210820-58210821	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149844605	chr8:58210822-58210823	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566325603	chr8:58210834-58210835	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs548807490	chr8:58210842-58210843	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77397930	chr8:58210847-58210848	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs150778131	chr8:58210857-58210858	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs143379040	chr8:58210858-58210859	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs58711178	chr8:58210863-58210864	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs151117633	chr8:58210898-58210899	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs533917480	chr8:58210909-58210910	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs184682601	chr8:58210970-58210971	Enhancers Active TSS	n/a	n/a	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
Schizophrenia	23813976	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58210000-58213400	Enhancers	Fetal Muscle Leg	muscle
2	chr8:58210600-58210800	Enhancers	Aorta	Aorta
3	chr8:58210600-58211000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:58210800-58211000	Enhancers	HSMMtube	muscle
5	chr8:58210800-58211200	Enhancers	Adipose Nuclei	Adipose
6	chr8:58210800-58211200	Active TSS	Aorta	Aorta
7	chr8:58211000-58211200	Enhancers	NHDF-Ad	bronchial
8	chr8:58211000-58211400	Active TSS	Muscle Satellite Cultured Cells	--
9	chr8:58211000-58211400	Enhancers	Pancreas	Pancrea
10	chr8:58211000-58211400	Enhancers	Right Atrium	heart
11	chr8:58211000-58211400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr8:58211000-58211400	Bivalent Enhancer	HSMMtube	muscle
13	chr8:58211200-58212200	Weak transcription	Aorta	Aorta
14	chr8:58212200-58213600	Enhancers	Aorta	Aorta
15	chr8:58213200-58214200	Enhancers	HSMM	muscle
16	chr8:58213200-58214200	Enhancers	HSMMtube	muscle
17	chr8:58213400-58217200	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:58213600-58214000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:58217200-58217800	Enhancers	Fetal Muscle Leg	muscle
20	chr8:58217600-58217800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:58217800-58220800	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:58218800-58220200	Enhancers	Fetal Lung	lung
23	chr8:58219000-58220400	Enhancers	Ovary	ovary
24	chr8:58219200-58220200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:58219600-58220000	Enhancers	Adipose Nuclei	Adipose
26	chr8:58219800-58220600	Enhancers	Fetal Stomach	stomach
27	chr8:58220000-58223400	Weak transcription	Adipose Nuclei	Adipose
28	chr8:58220200-58222800	Weak transcription	Fetal Lung	lung
29	chr8:58220800-58221400	Enhancers	Fetal Muscle Leg	muscle
30	chr8:58221400-58222600	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:58222600-58223000	Enhancers	Fetal Muscle Leg	muscle
32	chr8:58222800-58224800	Enhancers	Fetal Lung	lung
33	chr8:58223000-58224600	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:58223400-58224200	Enhancers	Adipose Nuclei	Adipose
35	chr8:58224600-58224800	Enhancers	Fetal Muscle Leg	muscle
36	chr8:58224600-58225400	Enhancers	Fetal Intestine Large	intestine
37	chr8:58224600-58226600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr8:58225000-58225200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:58230200-58231400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:58230200-58231400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:58230400-58231000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:58230400-58231200	Enhancers	Brain Angular Gyrus	brain
43	chr8:58230400-58231400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr8:58230400-58231600	Enhancers	Brain Anterior Caudate	brain
45	chr8:58230600-58231800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:58230800-58231200	Enhancers	Brain Substantia Nigra	brain
47	chr8:58230800-58231400	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:58238600-58239600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:58238800-58239000	Enhancers	Placenta	Placenta
50	chr8:58238800-58239200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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