Variant report

Variant	nsv1015836
Chromosome Location	chr8:53775269-53846789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:190)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:190 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:53835080-53835117	K562	blood:	n/a	n/a
2	ATF1	chr8:53808152-53808289	K562	blood:	n/a	n/a
3	BRCA1	chr8:53809465-53809560	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr8:53810109-53810437	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:53798967-53799236	A549	lung:	n/a	chr8:53799062-53799073
6	CEBPB	chr8:53830927-53831156	K562	blood:	n/a	chr8:53831113-53831124
7	CEBPB	chr8:53798977-53799209	HepG2	liver:	n/a	chr8:53799062-53799073
8	CEBPB	chr8:53834940-53834973	A549	lung:	n/a	n/a
9	CEBPB	chr8:53830968-53831268	HepG2	liver:	n/a	chr8:53831113-53831124
10	CEBPB	chr8:53809910-53810405	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr8:53830972-53831278	IMR90	lung:	n/a	chr8:53831113-53831124
12	CEBPB	chr8:53783054-53783127	HepG2	liver:	n/a	chr8:53783077-53783088
13	CEBPB	chr8:53827418-53827672	Hela-S3	cervix:	n/a	chr8:53827575-53827587
14	CEBPB	chr8:53831668-53832176	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr8:53810013-53810448	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr8:53836900-53837050	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr8:53836646-53837070	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:53836706-53836962	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr8:53836760-53836910	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr8:53796100-53796250	GM12873	blood:	n/a	n/a
21	CTCF	chr8:53836729-53836887	A549	lung:	n/a	n/a
22	CTCF	chr8:53836720-53836870	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr8:53836740-53836890	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr8:53836742-53836933	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:53836760-53836910	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr8:53836734-53836923	LNCaP	prostate:	n/a	n/a
27	CTCF	chr8:53836820-53836970	GM12864	blood:	n/a	n/a
28	CTCF	chr8:53836580-53836850	GM12872	blood:	n/a	n/a
29	CTCF	chr8:53836760-53836910	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr8:53836740-53836890	GM12878	blood:	n/a	n/a
31	CTCF	chr8:53836760-53836910	HMEC	breast:	n/a	n/a
32	CTCF	chr8:53836700-53836850	HL-60	blood:	n/a	n/a
33	CTCF	chr8:53836770-53836903	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:53836720-53836870	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr8:53836680-53836830	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr8:53836840-53836990	RPTEC	kidney:	n/a	n/a
37	CTCF	chr8:53836700-53836850	AG04450	lung:	n/a	n/a
38	CTCF	chr8:53836757-53836907	K562	blood:	n/a	n/a
39	CTCF	chr8:53836740-53836890	HVMF	connective:	n/a	n/a
40	CTCF	chr8:53836740-53836890	MCF-7	breast:	n/a	n/a
41	CTCF	chr8:53836776-53836890	GM13977	blood:	n/a	n/a
42	CTCF	chr8:53813680-53813830	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr8:53836748-53836930	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr8:53836724-53836973	Medullo	brain:	n/a	n/a
45	CTCF	chr8:53836780-53836930	HCT-116	colon:	n/a	n/a
46	CTCF	chr8:53836740-53836890	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr8:53837240-53837390	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr8:53836724-53836887	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr8:53836840-53836990	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr8:53836569-53837056	MCF-7	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:53818664..53820384-chr8:53824102..53826762,2	K562	blood:
2	chr8:53818664..53820384-chr8:53824102..53826762,2	K562	blood:
3	chr8:53797993..53800966-chr8:53802377..53805640,4	K562	blood:
4	chr8:53775937..53778409-chr8:53784460..53787182,3	MCF-7	breast:
5	chr8:53824182..53826447-chr8:53833370..53835967,2	K562	blood:
6	chr8:53824182..53826447-chr8:53833370..53835967,2	K562	blood:
7	chr8:53784191..53786210-chr8:53800399..53802685,2	K562	blood:
8	chr8:53805931..53807978-chr8:53816689..53818778,2	K562	blood:
9	chr8:53805931..53807978-chr8:53816689..53818778,2	K562	blood:
10	chr14:88237597..88238206-chr8:53793496..53793998,3	MCF-7	breast:
11	chr8:53797993..53800966-chr8:53802377..53805640,4	K562	blood:
12	chr8:53775937..53778409-chr8:53784460..53787182,3	MCF-7	breast:
13	chr8:53784191..53786210-chr8:53800399..53802685,2	K562	blood:

No data

Variant related genes	Relation type
NPBWR1	TF binding region

Extended variants
information (count: 1231 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562419746	chr8:53778297-53778298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540598087	chr8:53778340-53778341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369922373	chr8:53778341-53778342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565555473	chr8:53778343-53778344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376573151	chr8:53778356-53778357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140816278	chr8:53778358-53778359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77018800	chr8:53778389-53778390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144853146	chr8:53778398-53778399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576094137	chr8:53780202-53780203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182072691	chr8:53780212-53780213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575699355	chr8:53780333-53780334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561700226	chr8:53780359-53780360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529228360	chr8:53780362-53780363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537814236	chr8:53780383-53780384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3909686	chr8:53780436-53780437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs184631127	chr8:53780449-53780450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3909685	chr8:53780507-53780508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148772924	chr8:53780538-53780539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189092552	chr8:53780584-53780585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530576842	chr8:53780617-53780618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180780096	chr8:53780641-53780642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116450410	chr8:53780649-53780650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs118144984	chr8:53780659-53780660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142544762	chr8:53780681-53780682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111786500	chr8:53780703-53780704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539659577	chr8:53780771-53780772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557902675	chr8:53780795-53780796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117009875	chr8:53780856-53780857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72637485	chr8:53780909-53780910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145995939	chr8:53780967-53780968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186408158	chr8:53780987-53780988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573930336	chr8:53781003-53781004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190088882	chr8:53781056-53781057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372644105	chr8:53781082-53781083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181608936	chr8:53781089-53781090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553547378	chr8:53781102-53781103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545230718	chr8:53781147-53781148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563435979	chr8:53781179-53781180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3900579	chr8:53781201-53781202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs59211072	chr8:53781211-53781212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368708755	chr8:53781268-53781269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140932030	chr8:53781280-53781281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374182294	chr8:53781298-53781299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7002842	chr8:53781379-53781380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572099582	chr8:53781391-53781392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564788692	chr8:53781399-53781400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368297607	chr8:53781418-53781419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566264892	chr8:53781450-53781451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143146000	chr8:53781465-53781466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557938008	chr8:53781592-53781593	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	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
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53778200-53778400	Enhancers	Liver	Liver
2	chr8:53780200-53781200	Enhancers	Dnd41	blood
3	chr8:53781000-53781800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:53781000-53781800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:53781800-53782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:53781800-53788800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:53782000-53782600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:53782600-53784200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:53784200-53784600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:53784600-53789000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:53788800-53790200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:53789000-53789400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:53789400-53789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:53789600-53790200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:53793400-53794000	ZNF genes & repeats	Dnd41	blood
16	chr8:53795200-53796400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:53796400-53796600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:53804800-53805400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:53804800-53805400	Enhancers	HMEC	breast
20	chr8:53805400-53809600	Weak transcription	HMEC	breast
21	chr8:53805600-53805800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:53805800-53806400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:53806400-53807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:53807400-53808200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:53807800-53808200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:53809600-53811200	Enhancers	HMEC	breast
27	chr8:53809800-53810400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:53809800-53810600	Enhancers	NHEK	skin
29	chr8:53809800-53810800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:53809800-53810800	Enhancers	Hela-S3	cervix
31	chr8:53811200-53811800	Weak transcription	HMEC	breast
32	chr8:53811800-53812000	Enhancers	HMEC	breast
33	chr8:53818400-53819000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:53818400-53819600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:53818800-53819800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:53818800-53819800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:53818800-53819800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:53819400-53819800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:53820800-53821800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:53825200-53825600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:53825200-53825600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:53825200-53825800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:53825200-53825800	Enhancers	HMEC	breast
44	chr8:53825400-53825600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr8:53825400-53825600	Enhancers	Hela-S3	cervix
46	chr8:53825400-53825600	Enhancers	HSMMtube	muscle
47	chr8:53825400-53825800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:53825800-53831200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:53826000-53831000	Weak transcription	Hela-S3	cervix
50	chr8:53831000-53832400	Enhancers	Hela-S3	cervix

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