Variant report

Variant	nsv890942
Chromosome Location	chr8:60639357-60686330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:60662311-60662650	K562	blood:	n/a	n/a
2	BACH1	chr8:60662311-60662592	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr8:60670693-60670702	GM12878	blood:	n/a	n/a
4	BRCA1	chr8:60668343-60668400	GM12878	blood:	n/a	n/a
5	CBX3	chr8:60684132-60684420	HCT-116	colon:	n/a	n/a
6	CEBPB	chr8:60658124-60658432	HepG2	liver:	n/a	chr8:60658249-60658260
7	CEBPB	chr8:60658127-60658425	IMR90	lung:	n/a	chr8:60658249-60658260
8	CEBPB	chr8:60683016-60683180	HepG2	liver:	n/a	chr8:60683102-60683113
9	CEBPB	chr8:60658109-60658433	Hela-S3	cervix:	n/a	chr8:60658249-60658260
10	CEBPB	chr8:60658133-60658384	A549	lung:	n/a	chr8:60658249-60658260
11	CEBPB	chr8:60639255-60639501	IMR90	lung:	n/a	chr8:60639375-60639388
12	CEBPB	chr8:60639207-60639419	HepG2	liver:	n/a	chr8:60639375-60639388
13	CTCF	chr8:60670665-60670684	LNCaP	prostate:	n/a	n/a
14	CTCF	chr8:60646019-60646029	Lung_OC	lung:	n/a	n/a
15	CTCF	chr8:60650461-60650481	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr8:60646031-60646055	Lung_OC	lung:	n/a	n/a
17	CUX1	chr8:60652324-60652440	GM12878	blood:	n/a	n/a
18	CUX1	chr8:60650250-60650403	GM12878	blood:	n/a	n/a
19	E2F4	chr8:60646359-60646474	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr8:60654199-60654596	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr8:60650086-60650522	GM12878	blood:	n/a	chr8:60650297-60650308
22	EP300	chr8:60650213-60650413	GM12878	blood:	n/a	n/a
23	FOS	chr8:60647553-60647710	MCF10A-Er-Src	breast:	n/a	chr8:60647599-60647608 chr8:60647598-60647607 chr8:60647599-60647606 chr8:60647599-60647607
24	FOS	chr8:60662310-60662611	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr8:60662311-60662608	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr8:60669731-60669907	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr8:60662306-60662603	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr8:60662295-60662604	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr8:60670555-60670798	T-47D	breast:	n/a	n/a
30	FOXA1	chr8:60662263-60662535	T-47D	breast:	n/a	n/a
31	FOXA1	chr8:60662262-60662602	T-47D	breast:	n/a	n/a
32	GATA3	chr8:60657605-60657716	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr8:60668657-60668727	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr8:60670463-60670805	T-47D	breast:	n/a	n/a
35	JUN	chr8:60675065-60675135	HepG2	liver:	n/a	chr8:60675099-60675108 chr8:60675095-60675108
36	JUN	chr8:60673572-60673653	K562	blood:	n/a	n/a
37	JUN	chr8:60672173-60672219	H1-hESC	embryonic stem cell:	n/a	n/a
38	JUN	chr8:60669730-60670002	HepG2	liver:	n/a	chr8:60669846-60669859
39	JUND	chr8:60675071-60675242	HepG2	liver:	n/a	chr8:60675099-60675108 chr8:60675082-60675093
40	JUND	chr8:60669699-60670030	HepG2	liver:	n/a	n/a
41	KAP1	chr8:60683922-60684476	HEK293	kidney:	n/a	n/a
42	KAP1	chr8:60684040-60684427	U2OS	brain:	n/a	n/a
43	MAFF	chr8:60662300-60662636	K562	blood:	n/a	chr8:60662464-60662482
44	MAFF	chr8:60662290-60662647	HepG2	liver:	n/a	chr8:60662464-60662482
45	MAFK	chr8:60662290-60662649	IMR90	lung:	n/a	chr8:60662465-60662480
46	MAFK	chr8:60662333-60662617	H1-hESC	embryonic stem cell:	n/a	chr8:60662465-60662480
47	MAFK	chr8:60662286-60662653	HepG2	liver:	n/a	chr8:60662465-60662480
48	MAFK	chr8:60662308-60662613	K562	blood:	n/a	chr8:60662465-60662480
49	MAFK	chr8:60662291-60662645	HepG2	liver:	n/a	chr8:60662465-60662480
50	MAFK	chr8:60662309-60662626	Hela-S3	cervix:	n/a	chr8:60662465-60662480

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:60674791-60674841	HRE	kidney:	n/a
2	chr8:60674791-60674841	LNCaP	prostate:	n/a
3	chr8:60674791-60674841	Caco-2	colon:	n/a
4	chr8:60674791-60674841	AoSMC	blood vessel:	n/a
5	chr8:60674791-60674841	BJ	skin:	n/a
6	chr8:60674791-60674841	AG09319	gingival:	n/a
7	chr8:60674791-60674841	AG09309	skin:	n/a
8	chr8:60674791-60674841	MCF10A-Er-Src	breast:	n/a
9	chr8:60674791-60674841	Hepatocyte	liver:	n/a
10	chr8:60674791-60674841	HAEpiC	amniotic membrane:	n/a
11	chr8:60674791-60674841	NH-A	brain:	n/a
12	chr8:60674791-60674841	SK-N-SH	brain:	n/a
13	chr8:60674791-60674841	HPAEpiC	pulmonary alveolar:	n/a
14	chr8:60674791-60674841	K562	blood:	n/a
15	chr8:60674791-60674841	HepG2	liver:	n/a
16	chr8:60674791-60674841	NT2-D1	testis:	n/a
17	chr8:60674791-60674841	AG04450	lung:	fetal
18	chr8:60674791-60674841	HRCEpiC	kidney:	n/a
19	chr8:60674791-60674841	HMEC	breast:	n/a
20	chr8:60674791-60674841	NHBE	bronchial:	n/a
21	chr8:60674791-60674841	NHDF-neo	bronchial:	n/a
22	chr8:60674791-60674841	GM12891	blood:	n/a
23	chr8:60674791-60674841	MCF-7	breast:	n/a
24	chr8:60674791-60674841	BE2_C	brain:	n/a
25	chr8:60674791-60674841	HCT-116	colon:	n/a
26	chr8:60674791-60674841	AG10803	skin:	n/a
27	chr8:60674791-60674841	HCPEpiC	choroid plexus:	n/a
28	chr8:60674791-60674841	HL-60	blood:	n/a
29	chr8:60674791-60674841	H1-hESC	embryonic stem cell:	embryo
30	chr8:60674791-60674841	SKMC	muscle:	n/a
31	chr8:60674791-60674841	GM06990	blood:	n/a
32	chr8:60674791-60674841	ovcar-3	ovarian:	n/a
33	chr8:60674791-60674841	HCM	heart:	n/a
34	chr8:60674791-60674841	GM12878	blood:	n/a
35	chr8:60674791-60674841	AG04449	skin:	fetal
36	chr8:60674791-60674841	SAEC	small airway:	n/a
37	chr8:60674791-60674841	HRPEpiC	eye:	n/a
38	chr8:60674791-60674841	CMK	blood:	n/a
39	chr8:60674791-60674841	HEEpiC	esophagus:	n/a
40	chr8:60674791-60674841	GM19239	blood:	n/a
41	chr8:60674791-60674841	RPTEC	kidney:	n/a
42	chr8:60674791-60674841	PFSK-1	brain:	n/a
43	chr8:60674791-60674841	T-47D	breast:	n/a
44	chr8:60674791-60674841	PANC-1	pancreas:	n/a
45	chr8:60674791-60674841	ProgFib	skin:	n/a
46	chr8:60674791-60674841	PrEC	prostate:	n/a
47	chr8:60674791-60674841	Jurkat	blood:	n/a
48	chr8:60674791-60674841	SK-N-MC	brain:	n/a
49	chr8:60674791-60674841	HCF	heart:	n/a
50	chr8:60674791-60674841	HNPCEpiC	eye:	n/a

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No.	Distal block	Cell Line	Cell type
1	chr8:60655022..60657842-chr8:60658426..60661033,2	K562	blood:
2	chr7:100026306..100026939-chr8:60670573..60671075,2	NB4	blood:
3	chr8:60555606..60557604-chr8:60636589..60639437,2	MCF-7	breast:
4	chr8:60655022..60657842-chr8:60658426..60661033,2	K562	blood:
5	chr16:73499670..73500216-chr8:60644024..60644544,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB2A-7	chr8:60672606-60672822	NONHSAT126811

No data

Variant related genes	Relation type
ENSG00000253413	TF binding region
ENSG00000253413	CpG island
ENSG00000146834	chromatin interactions
ENSG00000078487	chromatin interactions

Extended variants
information (count: 829 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10112925	chr8:60639357-60639358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539313171	chr8:60639371-60639372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150781497	chr8:60639375-60639376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554534369	chr8:60639384-60639385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75166396	chr8:60639386-60639387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184127822	chr8:60639454-60639455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555438622	chr8:60639484-60639485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573606386	chr8:60639485-60639486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567313920	chr8:60639537-60639538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562508894	chr8:60639579-60639580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550321416	chr8:60639662-60639663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371828806	chr8:60639698-60639699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35501700	chr8:60639704-60639705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544878337	chr8:60639708-60639709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116557100	chr8:60639743-60639744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187865804	chr8:60639820-60639821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552976974	chr8:60640001-60640002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189642011	chr8:60640042-60640043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549011610	chr8:60640160-60640161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561346525	chr8:60640207-60640208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531679691	chr8:60640229-60640230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62504740	chr8:60640241-60640242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182323736	chr8:60640270-60640271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139137486	chr8:60640301-60640302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539270992	chr8:60640333-60640334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149964154	chr8:60640353-60640354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115841718	chr8:60640358-60640359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536948281	chr8:60640367-60640368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186994085	chr8:60640423-60640424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555020773	chr8:60640461-60640462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11782188	chr8:60640521-60640522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537513970	chr8:60640526-60640527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577604880	chr8:60640607-60640608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11782236	chr8:60640656-60640657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577462768	chr8:60640688-60640689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192915791	chr8:60640689-60640690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544843488	chr8:60640694-60640695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566052056	chr8:60640755-60640756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145062066	chr8:60640758-60640759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113666795	chr8:60640761-60640762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542528908	chr8:60640800-60640801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139820370	chr8:60640831-60640832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531760714	chr8:60640833-60640834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368141952	chr8:60640836-60640837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188730006	chr8:60640838-60640839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143122343	chr8:60640843-60640844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532752239	chr8:60640845-60640846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193051371	chr8:60640865-60640866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184837049	chr8:60640873-60640874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189601638	chr8:60640887-60640888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60638800-60639800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:60639000-60639800	Enhancers	Primary B cells from cord blood	blood
3	chr8:60639800-60640800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:60639800-60641000	Weak transcription	Primary B cells from cord blood	blood
5	chr8:60640800-60642000	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:60641000-60641200	Enhancers	Primary B cells from cord blood	blood
7	chr8:60641800-60642400	Enhancers	Placenta	Placenta
8	chr8:60649600-60651200	Enhancers	Primary B cells from cord blood	blood
9	chr8:60650000-60650800	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:60651200-60655000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:60666400-60666600	Enhancers	Fetal Brain Female	brain
12	chr8:60666600-60667600	Weak transcription	Fetal Brain Female	brain
13	chr8:60667600-60668800	Enhancers	Fetal Brain Female	brain
14	chr8:60667800-60669000	Enhancers	Fetal Brain Male	brain
15	chr8:60668000-60668200	Weak transcription	Pancreas	Pancrea
16	chr8:60668200-60668400	ZNF genes & repeats	Pancreas	Pancrea
17	chr8:60668400-60668600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:60668400-60672000	Weak transcription	Pancreas	Pancrea
19	chr8:60670600-60670800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:60670800-60674400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:60672000-60672200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:60672000-60672200	ZNF genes & repeats	Pancreas	Pancrea
23	chr8:60672000-60672400	Enhancers	Fetal Muscle Leg	muscle
24	chr8:60672000-60673000	Enhancers	Fetal Stomach	stomach
25	chr8:60672200-60674600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:60673000-60673600	Weak transcription	Fetal Stomach	stomach
27	chr8:60673600-60673800	Enhancers	Fetal Stomach	stomach
28	chr8:60674400-60675000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:60674600-60675000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:60675000-60676600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:60679800-60680600	Enhancers	Pancreatic Islets	Pancreatic Islet

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