Variant report

Variant	nsv982150
Chromosome Location	chr8:60723448-60742769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:60723503-60723786	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr8:60736223-60736468	HepG2	liver:	n/a	chr8:60736374-60736385
3	CEBPB	chr8:60736305-60736447	A549	lung:	n/a	chr8:60736374-60736385
4	CTCF	chr8:60741080-60741230	RPTEC	kidney:	n/a	n/a
5	CTCF	chr8:60740958-60741199	IMR90	lung:	n/a	n/a
6	CTCF	chr8:60740980-60741130	GM12875	blood:	n/a	n/a
7	CTCF	chr8:60741000-60741150	NHEK	skin:	n/a	n/a
8	CTCF	chr8:60741020-60741170	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr8:60740960-60741110	GM12874	blood:	n/a	n/a
10	CTCF	chr8:60740900-60741050	NB4	blood:	n/a	n/a
11	CTCF	chr8:60740740-60740890	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr8:60740991-60741162	LNCaP	prostate:	n/a	n/a
13	CTCF	chr8:60740980-60741130	HEK293	kidney:	n/a	n/a
14	CTCF	chr8:60740994-60741159	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr8:60740920-60741070	RPTEC	kidney:	n/a	n/a
16	CTCF	chr8:60741020-60741170	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr8:60741020-60741170	GM06990	blood:	n/a	n/a
18	CTCF	chr8:60740998-60741145	GM19238	blood:	n/a	n/a
19	CTCF	chr8:60740980-60741130	SAEC	small airway:	n/a	n/a
20	CTCF	chr8:60741000-60741150	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:60741060-60741210	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr8:60731619-60731652	GM10248	blood:	n/a	n/a
23	CTCF	chr8:60741000-60741150	GM12867	blood:	n/a	n/a
24	CTCF	chr8:60741000-60741150	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr8:60741040-60741190	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr8:60741020-60741170	GM12864	blood:	n/a	n/a
27	CTCF	chr8:60740891-60741186	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr8:60741060-60741210	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr8:60741010-60741137	NHEK	skin:	n/a	n/a
30	CTCF	chr8:60740760-60740910	SAEC	small airway:	n/a	n/a
31	CTCF	chr8:60741040-60741190	HCT-116	colon:	n/a	n/a
32	CTCF	chr8:60741000-60741178	Medullo	brain:	n/a	n/a
33	CTCF	chr8:60741034-60741128	GM10266	blood:	n/a	n/a
34	CTCF	chr8:60741040-60741190	GM12873	blood:	n/a	n/a
35	CTCF	chr8:60740980-60741130	GM12864	blood:	n/a	n/a
36	CTCF	chr8:60740980-60741130	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr8:60741003-60741164	LNCaP	prostate:	n/a	n/a
38	CTCF	chr8:60741020-60741170	GM12873	blood:	n/a	n/a
39	CTCF	chr8:60741020-60741170	AG09309	skin:	n/a	n/a
40	CTCF	chr8:60740960-60741110	GM12866	blood:	n/a	n/a
41	CTCF	chr8:60741040-60741190	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr8:60741000-60741150	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr8:60741060-60741210	HRE	kidney:	n/a	n/a
44	CTCF	chr8:60741040-60741190	AG04450	lung:	n/a	n/a
45	CTCF	chr8:60741060-60741210	HAc	cerebellar:	n/a	n/a
46	CTCF	chr8:60741020-60741170	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr8:60740980-60741130	GM12871	blood:	n/a	n/a
48	CTCF	chr8:60741026-60741134	Fibrobl	skin:	n/a	n/a
49	CTCF	chr8:60741040-60741158	HepG2	liver:	n/a	n/a
50	CTCF	chr8:60740996-60741184	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:60740494..60743423-chr8:60825234..60828198,2	K562	blood:
2	chr8:60738423..60740375-chr8:60748567..60750764,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB2A-6	chr8:60733683-60733992	NONHSAT126812

No data

Variant related genes	Relation type
ENSG00000253723	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111705581	chr8:60729222-60729223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142427222	chr8:60729224-60729225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs182759680	chr8:60731626-60731627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186974681	chr8:60731627-60731628	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs9657030	chr8:60731669-60731670	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371064463	chr8:60731678-60731679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs145683604	chr8:60731683-60731684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571802451	chr8:60731684-60731685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559592370	chr8:60731692-60731693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537567790	chr8:60731701-60731702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs538554206	chr8:60732061-60732062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573180022	chr8:60732068-60732069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185519229	chr8:60732112-60732113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373263771	chr8:60733692-60733693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs118047665	chr8:60733698-60733699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs556116996	chr8:60733749-60733750	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs140511490	chr8:60733773-60733774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs538565913	chr8:60733822-60733823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs553611801	chr8:60733835-60733836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs572000819	chr8:60733842-60733843	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542705759	chr8:60733846-60733847	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs150424445	chr8:60733864-60733865	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs117432854	chr8:60733887-60733888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs75230283	chr8:60733906-60733907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs374101776	chr8:60733937-60733938	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs28626870	chr8:60733949-60733950	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28445557	chr8:60733953-60733954	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541754204	chr8:60733954-60733955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs374799151	chr8:60733957-60733958	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs374476361	chr8:60738413-60738414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551590969	chr8:60738445-60738446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72657881	chr8:60738458-60738459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574943835	chr8:60738462-60738463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201584280	chr8:60738474-60738475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185446997	chr8:60738528-60738529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10097767	chr8:60738561-60738562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559343071	chr8:60738576-60738577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10111058	chr8:60738611-60738612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552370244	chr8:60738644-60738645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535143793	chr8:60738671-60738672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576954600	chr8:60738696-60738697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73251501	chr8:60738725-60738726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191335787	chr8:60738747-60738748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539506754	chr8:60738763-60738764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183586215	chr8:60738782-60738783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144904413	chr8:60738784-60738785	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60738400-60738800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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