Variant report

Variant	nsv8353
Chromosome Location	chr8:58179206-58188314
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	E2F4	chr8:58180057-58180448	MCF10A-Er-Src	breast:	n/a	n/a
2	FOXA1	chr8:58185585-58186018	HepG2	liver:	n/a	n/a
3	FOXA1	chr8:58184986-58185275	HepG2	liver:	n/a	n/a
4	FOXA1	chr8:58185554-58185908	HepG2	liver:	n/a	n/a
5	FOXA1	chr8:58185005-58185328	HepG2	liver:	n/a	n/a
6	FOXA1	chr8:58184959-58185448	HepG2	liver:	n/a	n/a
7	FOXA1	chr8:58185630-58185995	HepG2	liver:	n/a	n/a
8	FOXA1	chr8:58185011-58185376	HepG2	liver:	n/a	n/a
9	FOXA1	chr8:58185559-58185945	HepG2	liver:	n/a	n/a
10	FOXA2	chr8:58185598-58185963	HepG2	liver:	n/a	n/a
11	FOXA2	chr8:58185083-58185214	HepG2	liver:	n/a	n/a
12	HNF4A	chr8:58185594-58185923	HepG2	liver:	n/a	chr8:58185776-58185791
13	HNF4A	chr8:58185651-58185977	HepG2	liver:	n/a	chr8:58185776-58185791
14	MAFK	chr8:58185844-58186135	HepG2	liver:	n/a	chr8:58185987-58186003
15	MAFK	chr8:58185918-58186121	HepG2	liver:	n/a	chr8:58185987-58186003
16	POLR2A	chr8:58185280-58185372	Gliobla	brain:	n/a	n/a
17	POLR2A	chr8:58181694-58181852	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:58185419-58185465	Gliobla	brain:	n/a	n/a
19	RXRA	chr8:58185647-58185890	HepG2	liver:	n/a	n/a
20	SP1	chr8:58185549-58185935	HepG2	liver:	n/a	n/a
21	SPI1	chr8:58182021-58182222	GM12878	blood:	n/a	n/a
22	SPI1	chr8:58182022-58182209	K562	blood:	n/a	n/a
23	SPI1	chr8:58182022-58182219	GM12891	blood:	n/a	n/a
24	STAT3	chr8:58179999-58180198	MCF10A-Er-Src	breast:	n/a	n/a
25	YY1	chr8:58185690-58185963	HepG2	liver:	n/a	n/a
26	YY1	chr8:58185652-58185912	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
LINC00588	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575202091	chr8:58185217-58185218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140175131	chr8:58185266-58185267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114810777	chr8:58185298-58185299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529718600	chr8:58185311-58185312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190081124	chr8:58185313-58185314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143949729	chr8:58185318-58185319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59034808	chr8:58185337-58185338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116964504	chr8:58185354-58185355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550109561	chr8:58185369-58185370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532350062	chr8:58185372-58185373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151242263	chr8:58185386-58185387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182346231	chr8:58185390-58185391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116358613	chr8:58185399-58185400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58369686	chr8:58185409-58185410	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552450586	chr8:58185423-58185424	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185966966	chr8:58185450-58185451	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs117231141	chr8:58185465-58185466	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543154622	chr8:58185484-58185485	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs562915103	chr8:58185557-58185558	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573315439	chr8:58185576-58185577	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs67630725	chr8:58185580-58185581	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550968183	chr8:58185588-58185589	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567792305	chr8:58185613-58185614	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111838497	chr8:58185620-58185621	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190688081	chr8:58185624-58185625	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs368957464	chr8:58185642-58185643	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533420970	chr8:58185669-58185670	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs72650900	chr8:58185675-58185676	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184178722	chr8:58185721-58185722	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529342116	chr8:58185759-58185760	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150419796	chr8:58185848-58185849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566423805	chr8:58185858-58185859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538813853	chr8:58185933-58185934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371408144	chr8:58185996-58185997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535017267	chr8:58186021-58186022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16921971	chr8:58186045-58186046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188728297	chr8:58186061-58186062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17816781	chr8:58186161-58186162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs59549824	chr8:58186205-58186206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561974667	chr8:58186245-58186246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542258873	chr8:58186251-58186252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552842517	chr8:58186256-58186257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145249870	chr8:58186287-58186288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59071610	chr8:58186301-58186302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs368621941	chr8:58186316-58186317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565064887	chr8:58186327-58186328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530635421	chr8:58186354-58186355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543920105	chr8:58186358-58186359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563801427	chr8:58186374-58186375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529302518	chr8:58186379-58186380	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Sezary syndrome	18413736	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58185200-58185400	Enhancers	HepG2	liver
2	chr8:58185400-58185800	Enhancers	Pancreas	Pancrea
3	chr8:58185400-58185800	Flanking Active TSS	HepG2	liver
4	chr8:58185600-58187200	Enhancers	Fetal Lung	lung
5	chr8:58185800-58186600	Enhancers	HepG2	liver
6	chr8:58187600-58187800	Enhancers	Aorta	Aorta

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