Variant report

Variant	nsv1029576
Chromosome Location	chr8:51418003-51476385
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	BACH1	chr8:51448363-51448441	K562	blood:	n/a	n/a
2	CEBPB	chr8:51442889-51443030	H1-hESC	embryonic stem cell:	n/a	chr8:51442918-51442929 chr8:51442920-51442931 chr8:51442918-51442931
3	CEBPB	chr8:51463151-51463193	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:51463003-51463270	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr8:51442567-51443109	Hela-S3	cervix:	n/a	chr8:51442578-51442589 chr8:51442918-51442929 chr8:51442920-51442931 chr8:51442918-51442931
6	CEBPB	chr8:51440554-51440643	HepG2	liver:	n/a	chr8:51440566-51440577
7	CEBPB	chr8:51442847-51443072	HepG2	liver:	n/a	chr8:51442918-51442929 chr8:51442920-51442931 chr8:51442918-51442931
8	CTCF	chr8:51426058-51426145	MCF-7	breast:	n/a	n/a
9	CTCF	chr8:51438560-51438710	AG04450	lung:	n/a	chr8:51438697-51438705
10	CTCF	chr8:51426000-51426150	GM12864	blood:	n/a	n/a
11	CTCF	chr8:51438580-51438730	WERI-Rb-1	eye:	n/a	chr8:51438697-51438705
12	CTCF	chr8:51475054-51475115	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr8:51426060-51426210	GM12872	blood:	n/a	n/a
14	CTCF	chr8:51438600-51438750	HEK293	kidney:	n/a	chr8:51438697-51438705
15	CTCF	chr8:51426060-51426210	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr8:51426020-51426170	NB4	blood:	n/a	n/a
17	CTCF	chr8:51438580-51438730	Caco-2	colon:	n/a	chr8:51438697-51438705
18	CTCF	chr8:51426040-51426190	HepG2	liver:	n/a	n/a
19	CTCF	chr8:51438600-51438750	Hela-S3	cervix:	n/a	chr8:51438697-51438705
20	CTCF	chr8:51426060-51426210	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr8:51438600-51438750	HPAF	blood vessel:	n/a	chr8:51438697-51438705
22	CTCF	chr8:51470780-51470930	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr8:51438600-51438750	HAc	cerebellar:	n/a	chr8:51438697-51438705
24	CTCF	chr8:51429179-51429252	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr8:51426394-51426423	GM13976	blood:	n/a	n/a
26	CTCF	chr8:51426040-51426190	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:51475000-51475150	HAc	cerebellar:	n/a	n/a
28	CTCF	chr8:51438660-51438810	HEEpiC	esophagus:	n/a	chr8:51438697-51438705
29	CTCF	chr8:51426020-51426170	HEK293	kidney:	n/a	n/a
30	CTCF	chr8:51438700-51438850	HEK293	kidney:	n/a	n/a
31	CTCF	chr8:51426020-51426170	GM12872	blood:	n/a	n/a
32	CTCF	chr8:51438620-51438770	MCF-7	breast:	n/a	chr8:51438697-51438705
33	CTCF	chr8:51438600-51438750	HRPEpiC	eye:	n/a	chr8:51438697-51438705
34	CTCF	chr8:51438620-51438770	HA-sp	spinal cord:	n/a	chr8:51438697-51438705
35	CTCF	chr8:51426040-51426190	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr8:51438580-51438730	AG04450	lung:	n/a	chr8:51438697-51438705
37	CTCF	chr8:51438480-51438630	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:51426120-51426270	GM12874	blood:	n/a	n/a
39	CTCF	chr8:51438580-51438730	HPF	lung:	n/a	chr8:51438697-51438705
40	CTCF	chr8:51438640-51438790	HRPEpiC	eye:	n/a	chr8:51438697-51438705
41	CTCF	chr8:51426080-51426230	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr8:51438640-51438790	NHEK	skin:	n/a	chr8:51438697-51438705
43	CTCF	chr8:51438560-51438710	SK-N-SH_RA	brain:	n/a	chr8:51438697-51438705
44	E2F4	chr8:51444560-51444976	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr8:51469187-51469448	MCF10A-Er-Src	breast:	n/a	n/a
46	GATA3	chr8:51474316-51474516	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr8:51442755-51442955	SH-SY5Y	brain:	n/a	n/a
48	IRF3	chr8:51456417-51456523	GM12878	blood:	n/a	n/a
49	JUND	chr8:51438982-51439074	H1-hESC	embryonic stem cell:	n/a	n/a
50	KAP1	chr8:51450705-51451134	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:51449266-51449316	NT2-D1	testis:	n/a
2	chr8:51449266-51449316	HEEpiC	esophagus:	n/a
3	chr8:51449266-51449316	HL-60	blood:	n/a
4	chr8:51449266-51449316	Caco-2	colon:	n/a
5	chr8:51449266-51449316	AG10803	skin:	n/a
6	chr8:51449266-51449316	HRPEpiC	eye:	n/a
7	chr8:51449266-51449316	GM12891	blood:	n/a
8	chr8:51449266-51449316	HCM	heart:	n/a
9	chr8:51449266-51449316	HRCEpiC	kidney:	n/a
10	chr8:51449266-51449316	H1-hESC	embryonic stem cell:	embryo
11	chr8:51449266-51449316	NHBE	bronchial:	n/a
12	chr8:51449266-51449316	MCF-7	breast:	n/a
13	chr8:51449266-51449316	PANC-1	pancreas:	n/a
14	chr8:51449266-51449316	SK-N-SH	brain:	n/a
15	chr8:51449266-51449316	NH-A	brain:	n/a
16	chr8:51449266-51449316	IMR90	lung:	fetal
17	chr8:51449266-51449316	HMEC	breast:	n/a
18	chr8:51449266-51449316	Hepatocyte	liver:	n/a
19	chr8:51449266-51449316	CMK	blood:	n/a
20	chr8:51449266-51449316	HRE	kidney:	n/a
21	chr8:51449266-51449316	T-47D	breast:	n/a
22	chr8:51449266-51449316	HCT-116	colon:	n/a
23	chr8:51449266-51449316	BE2_C	brain:	n/a
24	chr8:51449266-51449316	K562	blood:	n/a
25	chr8:51449266-51449316	SK-N-SH_RA	brain:	n/a
26	chr8:51449266-51449316	AG04449	skin:	fetal
27	chr8:51449266-51449316	ovcar-3	ovarian:	n/a
28	chr8:51449266-51449316	GM19239	blood:	n/a
29	chr8:51449266-51449316	PrEC	prostate:	n/a
30	chr8:51449266-51449316	ProgFib	skin:	n/a
31	chr8:51449266-51449316	HPAEpiC	pulmonary alveolar:	n/a
32	chr8:51449266-51449316	AG04450	lung:	fetal
33	chr8:51449266-51449316	SK-N-MC	brain:	n/a
34	chr8:51449266-51449316	HepG2	liver:	n/a
35	chr8:51449266-51449316	HUVEC	blood vessel:	n/a
36	chr8:51449266-51449316	AG09319	gingival:	n/a
37	chr8:51449266-51449316	GM12892	blood:	n/a
38	chr8:51449266-51449316	LNCaP	prostate:	n/a
39	chr8:51449266-51449316	MCF10A-Er-Src	breast:	n/a
40	chr8:51449266-51449316	HCPEpiC	choroid plexus:	n/a
41	chr8:51449266-51449316	HEK293	kidney:	embryo
42	chr8:51449266-51449316	ECC-1	luminal epithelium:	n/a
43	chr8:51449266-51449316	SAEC	small airway:	n/a
44	chr8:51449266-51449316	AG09309	skin:	n/a
45	chr8:51449266-51449316	HIPEpiC	eye:	n/a
46	chr8:51449266-51449316	NB4	blood:	n/a
47	chr8:51449266-51449316	A549	lung:	n/a
48	chr8:51449266-51449316	HAEpiC	amniotic membrane:	n/a
49	chr8:51449266-51449316	BJ	skin:	n/a
50	chr8:51449266-51449316	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51464363..51466671-chr8:51475999..51477985,2	K562	blood:

Variant related genes	Relation type
SNTG1	TF binding region
SNTG1	CpG island
ENSG00000147481	chromatin interactions

Extended variants
information (count: 1610 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1610 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139675620	chr8:51426431-51426432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs532946168	chr8:51426440-51426441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184523467	chr8:51426457-51426458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189235419	chr8:51426458-51426459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545625901	chr8:51426467-51426468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539650051	chr8:51426500-51426501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs377640734	chr8:51426505-51426506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549471506	chr8:51426510-51426511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs117176344	chr8:51426534-51426535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs377562835	chr8:51426546-51426547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576155414	chr8:51426552-51426553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181884240	chr8:51426563-51426564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145200416	chr8:51426564-51426565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574499042	chr8:51426597-51426598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541810323	chr8:51426616-51426617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs560260148	chr8:51426625-51426626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527756868	chr8:51426650-51426651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs552771562	chr8:51426667-51426668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528928103	chr8:51426688-51426689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530139288	chr8:51426690-51426691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564546692	chr8:51426732-51426733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2467205	chr8:51426748-51426749	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186529880	chr8:51426805-51426806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78655974	chr8:51426814-51426815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568762294	chr8:51426837-51426838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535491306	chr8:51426838-51426839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375128751	chr8:51426846-51426847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547396511	chr8:51426866-51426867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565817835	chr8:51426877-51426878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs57988555	chr8:51426899-51426900	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576667292	chr8:51426931-51426932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62515747	chr8:51426939-51426940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371436413	chr8:51426954-51426955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs576158851	chr8:51426962-51426963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537207919	chr8:51426996-51426997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4873462	chr8:51427070-51427071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555280343	chr8:51427088-51427089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192040621	chr8:51427139-51427140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374574599	chr8:51427142-51427143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs367583574	chr8:51427149-51427150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs118073411	chr8:51427193-51427194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560098845	chr8:51427197-51427198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs180748254	chr8:51427199-51427200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183159063	chr8:51428408-51428409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533657481	chr8:51428432-51428433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs117361706	chr8:51428433-51428434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563312458	chr8:51428434-51428435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs530397499	chr8:51428448-51428449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540304526	chr8:51428452-51428453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188939708	chr8:51428453-51428454	ZNF genes & repeats	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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
low-grade B-cell lymphoma tumor	18367492	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
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51426400-51427200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr8:51428400-51429800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:51441000-51469200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51444200-51444400	Enhancers	Gastric	stomach
5	chr8:51451200-51452000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:51452000-51452200	Enhancers	Spleen	Spleen
7	chr8:51452000-51452400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:51457200-51457400	Enhancers	Brain Germinal Matrix	brain
9	chr8:51457400-51469400	Weak transcription	Brain Germinal Matrix	brain
10	chr8:51458200-51469400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:51469200-51470200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:51469400-51470400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:51470200-51471200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:51470400-51472000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:51471200-51489400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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