Variant report

Variant	nsv6223
Chromosome Location	chr8:62294904-62339988
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	ARID3A	chr8:62335547-62335790	HepG2	liver:	n/a	n/a
2	BATF	chr8:62309685-62309904	GM12878	blood:	n/a	n/a
3	BCL3	chr8:62303621-62303891	GM12878	blood:	n/a	n/a
4	CEBPB	chr8:62315776-62316090	K562	blood:	n/a	chr8:62315925-62315936
5	CEBPB	chr8:62315768-62316099	HepG2	liver:	n/a	chr8:62315925-62315936
6	CEBPB	chr8:62315711-62316193	A549	lung:	n/a	chr8:62315925-62315936
7	CEBPB	chr8:62323007-62323202	HepG2	liver:	n/a	chr8:62323068-62323077 chr8:62323066-62323079 chr8:62323068-62323077 chr8:62323068-62323077 chr8:62323068-62323077 chr8:62323067-62323078
8	CEBPB	chr8:62315766-62316109	A549	lung:	n/a	chr8:62315925-62315936
9	CEBPB	chr8:62315742-62316108	IMR90	lung:	n/a	chr8:62315925-62315936
10	CEBPB	chr8:62335578-62335786	HepG2	liver:	n/a	n/a
11	CEBPB	chr8:62315857-62315973	Hela-S3	cervix:	n/a	chr8:62315925-62315936
12	CEBPB	chr8:62315766-62316076	H1-hESC	embryonic stem cell:	n/a	chr8:62315925-62315936
13	CHD2	chr8:62335638-62335750	HepG2	liver:	n/a	n/a
14	CTCF	chr8:62327400-62327550	AG10803	skin:	n/a	chr8:62327412-62327425
15	CTCF	chr8:62297579-62297623	GM20000	blood:	n/a	n/a
16	CTCF	chr8:62336604-62336674	Fibrobl	skin:	n/a	n/a
17	CTCF	chr8:62297596-62297664	GM13976	blood:	n/a	n/a
18	CTCF	chr8:62327200-62327350	NHLF	lung:	n/a	n/a
19	CTCF	chr8:62338705-62338760	Fibrobl	skin:	n/a	n/a
20	E2F4	chr8:62296175-62296333	MCF10A-Er-Src	breast:	n/a	n/a
21	ELF1	chr8:62335589-62335777	HepG2	liver:	n/a	n/a
22	EP300	chr8:62335429-62335873	HepG2	liver:	n/a	chr8:62335463-62335477
23	EP300	chr8:62303861-62303899	HepG2	liver:	n/a	n/a
24	FOS	chr8:62317570-62317633	MCF10A-Er-Src	breast:	n/a	chr8:62317598-62317606 chr8:62317596-62317608
25	FOS	chr8:62315155-62315291	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr8:62296246-62296543	HUVEC	blood vessel:	n/a	chr8:62296384-62296395
27	FOS	chr8:62303825-62303838	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr8:62315200-62315291	MCF10A-Er-Src	breast:	n/a	n/a
29	FOSL2	chr8:62335504-62335866	HepG2	liver:	n/a	n/a
30	FOSL2	chr8:62314946-62315495	A549	lung:	n/a	n/a
31	FOSL2	chr8:62317462-62317847	SK-N-SH	brain:	n/a	chr8:62317598-62317606 chr8:62317596-62317608
32	FOXA2	chr8:62302641-62303035	A549	lung:	n/a	n/a
33	FOXM1	chr8:62301506-62301826	GM12878	blood:	n/a	n/a
34	GATA3	chr8:62296867-62297068	SH-SY5Y	brain:	n/a	chr8:62297000-62297011 chr8:62297032-62297041 chr8:62296976-62296985 chr8:62297034-62297041 chr8:62297034-62297044
35	GATA3	chr8:62317395-62317939	SK-N-SH	brain:	n/a	n/a
36	HDAC2	chr8:62335563-62335789	HepG2	liver:	n/a	n/a
37	HNF4A	chr8:62335419-62335792	HepG2	liver:	n/a	chr8:62335621-62335636 chr8:62335621-62335636 chr8:62335622-62335635 chr8:62335661-62335676 chr8:62335621-62335635 chr8:62335621-62335636 chr8:62335620-62335635 chr8:62335621-62335634 chr8:62335661-62335676 chr8:62335622-62335634 chr8:62335622-62335634 chr8:62335619-62335637 chr8:62335621-62335636
38	HNF4A	chr8:62335494-62335827	HepG2	liver:	n/a	chr8:62335621-62335636 chr8:62335621-62335636 chr8:62335622-62335635 chr8:62335661-62335676 chr8:62335621-62335635 chr8:62335621-62335636 chr8:62335620-62335635 chr8:62335621-62335634 chr8:62335661-62335676 chr8:62335622-62335634 chr8:62335622-62335634 chr8:62335619-62335637 chr8:62335621-62335636
39	HNF4A	chr8:62335402-62335797	HepG2	liver:	n/a	chr8:62335621-62335636 chr8:62335621-62335636 chr8:62335622-62335635 chr8:62335661-62335676 chr8:62335621-62335635 chr8:62335621-62335636 chr8:62335620-62335635 chr8:62335621-62335634 chr8:62335661-62335676 chr8:62335622-62335634 chr8:62335622-62335634 chr8:62335619-62335637 chr8:62335621-62335636
40	HNF4G	chr8:62335505-62335805	HepG2	liver:	n/a	chr8:62335621-62335636 chr8:62335621-62335636 chr8:62335619-62335634 chr8:62335622-62335635 chr8:62335621-62335635 chr8:62335621-62335636 chr8:62335621-62335634 chr8:62335661-62335676 chr8:62335622-62335634 chr8:62335622-62335634 chr8:62335662-62335677 chr8:62335619-62335637 chr8:62335621-62335636
41	JUND	chr8:62317450-62317738	H1-hESC	embryonic stem cell:	n/a	chr8:62317598-62317606 chr8:62317596-62317608
42	JUND	chr8:62315812-62315989	K562	blood:	n/a	n/a
43	JUND	chr8:62317335-62317821	SK-N-SH	brain:	n/a	chr8:62317598-62317606 chr8:62317596-62317608
44	JUND	chr8:62315812-62316012	HepG2	liver:	n/a	n/a
45	MAFF	chr8:62329020-62329047	K562	blood:	n/a	n/a
46	MAFF	chr8:62328970-62329133	HepG2	liver:	n/a	n/a
47	MAFF	chr8:62321750-62321871	HepG2	liver:	n/a	n/a
48	MAFK	chr8:62328895-62329162	HepG2	liver:	n/a	chr8:62329136-62329147
49	MAFK	chr8:62317251-62317527	H1-hESC	embryonic stem cell:	n/a	chr8:62317387-62317404 chr8:62317378-62317389 chr8:62317379-62317390 chr8:62317374-62317390 chr8:62317379-62317390
50	MAFK	chr8:62328995-62329131	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62338693..62341513-chr8:62344299..62346129,2	K562	blood:
2	chr8:62315268..62317052-chr8:62329952..62331844,2	K562	blood:
3	chr8:62315268..62317052-chr8:62329952..62331844,2	K562	blood:

Variant related genes	Relation type
CLVS1	TF binding region

Extended variants
information (count: 1333 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1333 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374504971	chr8:62295611-62295612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578179508	chr8:62295750-62295751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562957132	chr8:62295762-62295763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545178051	chr8:62295765-62295766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142540705	chr8:62295770-62295771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572970927	chr8:62295784-62295785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185468222	chr8:62295789-62295790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570258996	chr8:62295817-62295818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535808937	chr8:62295825-62295826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78884393	chr8:62295829-62295830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561677678	chr8:62295841-62295842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573286662	chr8:62295948-62295949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114614169	chr8:62295975-62295976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570902497	chr8:62295989-62295990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562147753	chr8:62296037-62296038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116977218	chr8:62296047-62296048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73682283	chr8:62296071-62296072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563791242	chr8:62296082-62296083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560708276	chr8:62296084-62296085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116066521	chr8:62296114-62296115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535151783	chr8:62296137-62296138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151100393	chr8:62296158-62296159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567997826	chr8:62296160-62296161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141041397	chr8:62296196-62296197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550154866	chr8:62296214-62296215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571680371	chr8:62296246-62296247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111447942	chr8:62296274-62296275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75845572	chr8:62296349-62296350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577738329	chr8:62296379-62296380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112441179	chr8:62296408-62296409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189931479	chr8:62296422-62296423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572972160	chr8:62296448-62296449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28674501	chr8:62296489-62296490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372354650	chr8:62296514-62296515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555234982	chr8:62296519-62296520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573646814	chr8:62296531-62296532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544109438	chr8:62296538-62296539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182452493	chr8:62296543-62296544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377094885	chr8:62296570-62296571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559476373	chr8:62296578-62296579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557178264	chr8:62296608-62296609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577587866	chr8:62296636-62296637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187080610	chr8:62296648-62296649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115436390	chr8:62296649-62296650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527875303	chr8:62296652-62296653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28545010	chr8:62296668-62296669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34252856	chr8:62296732-62296733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561471525	chr8:62296742-62296743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369774244	chr8:62296754-62296755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532004506	chr8:62296765-62296766	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62295600-62297200	Enhancers	Fetal Brain Male	brain
2	chr8:62296200-62297200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:62301800-62302200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:62302000-62302800	Enhancers	A549	lung
5	chr8:62302800-62303200	Active TSS	A549	lung
6	chr8:62303200-62303400	Weak transcription	A549	lung
7	chr8:62303800-62304000	Enhancers	A549	lung
8	chr8:62310400-62368200	Weak transcription	Fetal Brain Female	brain
9	chr8:62314800-62316000	Enhancers	Stomach Mucosa	stomach
10	chr8:62314800-62318400	Enhancers	HSMM	muscle
11	chr8:62315200-62315400	Enhancers	HSMMtube	muscle
12	chr8:62315200-62319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:62315400-62315600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:62315400-62316400	Weak transcription	HSMMtube	muscle
15	chr8:62315400-62317800	Enhancers	A549	lung
16	chr8:62315400-62319000	Enhancers	NHDF-Ad	bronchial
17	chr8:62315600-62315800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:62315600-62316600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:62316000-62317200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:62316400-62317600	Enhancers	HSMMtube	muscle
21	chr8:62316400-62318000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:62316400-62318000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr8:62316400-62318200	Enhancers	NHLF	lung
24	chr8:62316400-62318400	Enhancers	NH-A	brain
25	chr8:62316600-62316800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:62316600-62318200	Enhancers	Fetal Muscle Leg	muscle
27	chr8:62316600-62318600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:62316800-62317400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:62317000-62318000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:62317200-62317600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:62317200-62318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:62317400-62317600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:62317400-62317600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:62317400-62318000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:62317400-62318000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:62317600-62318000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:62317600-62318000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:62317600-62318000	Flanking Active TSS	HSMMtube	muscle
39	chr8:62317800-62318200	Enhancers	Osteobl	bone
40	chr8:62318000-62318200	Enhancers	HSMMtube	muscle
41	chr8:62318000-62318400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:62318000-62322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:62319000-62322800	Weak transcription	NHDF-Ad	bronchial
44	chr8:62319000-62326800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:62322400-62322600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
46	chr8:62322800-62323200	Enhancers	Adipose Nuclei	Adipose
47	chr8:62322800-62323200	Enhancers	NHDF-Ad	bronchial
48	chr8:62323000-62323200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:62323200-62326400	Weak transcription	Adipose Nuclei	Adipose
50	chr8:62323200-62326600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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