Variant report

Variant	nsv398476
Chromosome Location	chr8:63772081-63779449
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	chr8:63776660-63776810	GM12871	blood:	n/a	n/a
2	CTCF	chr8:63776683-63776807	GM19240	blood:	n/a	n/a
3	CTCF	chr8:63776593-63776880	K562	blood:	n/a	n/a
4	CTCF	chr8:63776680-63776830	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr8:63776700-63776850	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr8:63776640-63776790	GM12871	blood:	n/a	n/a
7	CTCF	chr8:63776640-63776790	AG04449	skin:	n/a	n/a
8	CTCF	chr8:63776680-63776830	AG10803	skin:	n/a	n/a
9	CTCF	chr8:63776431-63777078	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr8:63776654-63776833	GM12892	blood:	n/a	n/a
11	CTCF	chr8:63776660-63776810	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr8:63776680-63776830	HCFaa	heart:	n/a	n/a
13	CTCF	chr8:63776680-63776825	GM10266	blood:	n/a	n/a
14	CTCF	chr8:63776660-63776810	HVMF	connective:	n/a	n/a
15	CTCF	chr8:63776620-63776770	HVMF	connective:	n/a	n/a
16	CTCF	chr8:63776660-63776810	GM12868	blood:	n/a	n/a
17	CTCF	chr8:63776716-63776769	K562	blood:	n/a	n/a
18	CTCF	chr8:63776648-63776831	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr8:63776702-63776778	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr8:63776707-63776708	GM19238	blood:	n/a	n/a
21	CTCF	chr8:63776615-63776838	GM12891	blood:	n/a	n/a
22	CTCF	chr8:63776709-63776773	GM19238	blood:	n/a	n/a
23	CTCF	chr8:63776720-63776870	SAEC	small airway:	n/a	n/a
24	CTCF	chr8:63776640-63776790	GM12875	blood:	n/a	n/a
25	EBF1	chr8:63773858-63774050	GM12878	blood:	n/a	chr8:63773942-63773953
26	ELF1	chr8:63776468-63776826	GM12878	blood:	n/a	n/a
27	FOS	chr8:63773673-63773970	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr8:63773517-63773985	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr8:63773680-63773962	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr8:63773420-63773970	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA1	chr8:63773414-63773690	T-47D	breast:	n/a	n/a
32	FOXA1	chr8:63773380-63773745	T-47D	breast:	n/a	n/a
33	GATA3	chr8:63773342-63773750	MCF-7	breast:	n/a	n/a
34	GATA3	chr8:63773403-63773738	T-47D	breast:	n/a	n/a
35	IRF1	chr8:63776659-63776941	K562	blood:	n/a	chr8:63776773-63776790 chr8:63776773-63776787 chr8:63776775-63776786 chr8:63776772-63776786 chr8:63776774-63776788 chr8:63776774-63776784 chr8:63776772-63776792 chr8:63776773-63776785 chr8:63776776-63776790
36	IRF1	chr8:63776615-63776975	K562	blood:	n/a	chr8:63776773-63776790 chr8:63776773-63776787 chr8:63776775-63776786 chr8:63776772-63776786 chr8:63776774-63776788 chr8:63776774-63776784 chr8:63776772-63776792 chr8:63776773-63776785 chr8:63776776-63776790
37	JUN	chr8:63775313-63775325	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAFK	chr8:63777296-63777526	HepG2	liver:	n/a	chr8:63777359-63777370 chr8:63777359-63777370 chr8:63777357-63777371 chr8:63777358-63777373 chr8:63777358-63777369 chr8:63777358-63777374 chr8:63777358-63777369
39	MAFK	chr8:63777243-63777512	HepG2	liver:	n/a	chr8:63777359-63777370 chr8:63777359-63777370 chr8:63777357-63777371 chr8:63777358-63777373 chr8:63777358-63777369 chr8:63777358-63777374 chr8:63777358-63777369
40	MAX	chr8:63776555-63776894	SK-N-SH	brain:	n/a	n/a
41	MYC	chr8:63773485-63773770	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr8:63776526-63776595	K562	blood:	n/a	n/a
43	POLR2A	chr8:63778053-63778055	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr8:63775890-63775900	GM12878	blood:	n/a	n/a
45	RAD21	chr8:63776665-63776817	K562	blood:	n/a	n/a
46	RAD21	chr8:63776579-63776882	GM12878	blood:	n/a	n/a
47	RAD21	chr8:63776417-63777058	SK-N-SH	brain:	n/a	n/a
48	RAD21	chr8:63776624-63776877	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chr8:63776635-63776884	SK-N-SH_RA	brain:	n/a	n/a
50	RCOR1	chr8:63776633-63776782	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:63776755-63776805	NB4	blood:	n/a
2	chr8:63776755-63776805	NB4	blood:	n/a
3	chr8:63777430-63777480	AG10803	skin:	n/a
4	chr8:63776762-63776812	HEEpiC	esophagus:	n/a
5	chr8:63777430-63777480	HRE	kidney:	n/a
6	chr8:63776755-63776805	AG10803	skin:	n/a
7	chr8:63776508-63776558	SK-N-SH	brain:	n/a
8	chr8:63776762-63776812	HCF	heart:	n/a
9	chr8:63777430-63777480	LNCaP	prostate:	n/a
10	chr8:63776762-63776812	ovcar-3	ovarian:	n/a
11	chr8:63777430-63777480	GM12892	blood:	n/a
12	chr8:63777430-63777480	NT2-D1	testis:	n/a
13	chr8:63776642-63776692	GM12878	blood:	n/a
14	chr8:63776508-63776558	IMR90	lung:	fetal
15	chr8:63776755-63776805	H1-hESC	embryonic stem cell:	embryo
16	chr8:63776755-63776805	PFSK-1	brain:	n/a
17	chr8:63776508-63776558	MCF10A-Er-Src	breast:	n/a
18	chr8:63776642-63776692	HIPEpiC	eye:	n/a
19	chr8:63776508-63776558	A549	lung:	n/a
20	chr8:63776508-63776558	Jurkat	blood:	n/a
21	chr8:63777430-63777480	HL-60	blood:	n/a
22	chr8:63776642-63776692	U87	brain:	n/a
23	chr8:63776755-63776805	HepG2	liver:	n/a
24	chr8:63776642-63776692	Hela-S3	cervix:	n/a
25	chr8:63776762-63776812	HRCEpiC	kidney:	n/a
26	chr8:63776508-63776558	AoSMC	blood vessel:	n/a
27	chr8:63776755-63776805	HEEpiC	esophagus:	n/a
28	chr8:63777430-63777480	HNPCEpiC	eye:	n/a
29	chr8:63776642-63776692	Jurkat	blood:	n/a
30	chr8:63776508-63776558	Caco-2	colon:	n/a
31	chr8:63776762-63776812	GM12892	blood:	n/a
32	chr8:63776642-63776692	SK-N-SH	brain:	n/a
33	chr8:63776642-63776692	MCF-7	breast:	n/a
34	chr8:63776762-63776812	AG10803	skin:	n/a
35	chr8:63777430-63777480	PrEC	prostate:	n/a
36	chr8:63776508-63776558	Hela-S3	cervix:	n/a
37	chr8:63776755-63776805	HEK293	kidney:	embryo
38	chr8:63776762-63776812	HCM	heart:	n/a
39	chr8:63776642-63776692	BJ	skin:	n/a
40	chr8:63776755-63776805	SAEC	small airway:	n/a
41	chr8:63776508-63776558	T-47D	breast:	n/a
42	chr8:63777430-63777480	Caco-2	colon:	n/a
43	chr8:63776508-63776558	NHDF-neo	bronchial:	n/a
44	chr8:63776762-63776812	LNCaP	prostate:	n/a
45	chr8:63777430-63777480	AoSMC	blood vessel:	n/a
46	chr8:63776762-63776812	HCPEpiC	choroid plexus:	n/a
47	chr8:63776508-63776558	PANC-1	pancreas:	n/a
48	chr8:63776642-63776692	HUVEC	blood vessel:	n/a
49	chr8:63776755-63776805	GM19239	blood:	n/a
50	chr8:63776508-63776558	BE2_C	brain:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGH-2	chr8:63775641-63776740	NONHSAT126908

Variant related genes	Relation type
XRCC6P4	TF binding region
ENSG00000253431	TF binding region
XRCC6P4	CpG island
ENSG00000253431	CpG island

Extended variants
information (count: 311 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560472360	chr8:63772085-63772086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191358915	chr8:63772091-63772092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540598370	chr8:63772094-63772095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550689367	chr8:63772105-63772106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561959618	chr8:63772109-63772110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539355000	chr8:63772112-63772113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183551519	chr8:63772120-63772121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550802001	chr8:63772164-63772165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575710498	chr8:63772165-63772166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544237751	chr8:63772174-63772175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147165763	chr8:63772177-63772178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555083139	chr8:63772199-63772200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188641549	chr8:63772205-63772206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566791013	chr8:63772252-63772253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115621692	chr8:63772314-63772315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555299499	chr8:63772315-63772316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13263123	chr8:63772316-63772317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193139536	chr8:63772341-63772342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35971944	chr8:63772371-63772372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537937760	chr8:63772384-63772385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540452785	chr8:63772424-63772425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373829714	chr8:63772556-63772557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367997030	chr8:63772560-63772561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559902694	chr8:63772581-63772582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184733788	chr8:63772654-63772655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60156098	chr8:63772656-63772657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572342261	chr8:63772704-63772705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140443384	chr8:63772735-63772736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562071064	chr8:63772736-63772737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529309110	chr8:63772782-63772783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187541080	chr8:63772797-63772798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191355361	chr8:63772799-63772800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142671628	chr8:63772809-63772810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551534846	chr8:63772832-63772833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566729219	chr8:63772844-63772845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183516097	chr8:63772881-63772882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189740865	chr8:63772924-63772925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144453416	chr8:63772933-63772934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55641737	chr8:63772956-63772957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs181223808	chr8:63772957-63772958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10504356	chr8:63772977-63772978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538759616	chr8:63773004-63773005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553962734	chr8:63773032-63773033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201135680	chr8:63773033-63773034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185361505	chr8:63773034-63773035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77606070	chr8:63773054-63773055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573953791	chr8:63773065-63773066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10504357	chr8:63773093-63773094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562566532	chr8:63773178-63773179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115103742	chr8:63773241-63773242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63759000-63776400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63773000-63774800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:63773600-63775800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:63775800-63776200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:63776000-63776400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:63776400-63776800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:63776400-63776800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr8:63776400-63776800	Active TSS	Gastric	stomach
9	chr8:63776400-63777000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:63776400-63777000	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:63776600-63777000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:63776600-63777000	Active TSS	Thymus	Thymus
13	chr8:63776600-63777200	Active TSS	K562	blood
14	chr8:63776600-63777600	ZNF genes & repeats	Fetal Brain Female	brain
15	chr8:63776800-63777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:63776800-63777200	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr8:63776800-63777400	Enhancers	Placenta	Placenta
18	chr8:63777200-63777600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:63777600-63779800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:63777600-63781200	Weak transcription	Fetal Brain Female	brain

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