Variant report

Variant	nsv971312
Chromosome Location	chr8:59413234-59417187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:59412484-59413478	HepG2	liver:	n/a	n/a
2	KAP1	chr8:59413844-59414358	K562	blood:	n/a	n/a
3	MAFF	chr8:59416550-59416623	K562	blood:	n/a	chr8:59416604-59416618 chr8:59416598-59416616
4	MAFF	chr8:59416453-59416772	HepG2	liver:	n/a	chr8:59416604-59416618 chr8:59416598-59416616
5	MAFK	chr8:59416417-59416754	HepG2	liver:	n/a	chr8:59416436-59416447 chr8:59416603-59416619 chr8:59416604-59416618 chr8:59416601-59416621
6	MAFK	chr8:59416430-59416773	HepG2	liver:	n/a	chr8:59416436-59416447 chr8:59416603-59416619 chr8:59416604-59416618 chr8:59416601-59416621
7	MAFK	chr8:59416537-59416734	K562	blood:	n/a	chr8:59416603-59416619 chr8:59416604-59416618 chr8:59416601-59416621
8	NFIC	chr8:59412580-59413292	HepG2	liver:	n/a	n/a
9	STAT3	chr8:59413620-59413633	MCF10A-Er-Src	breast:	n/a	n/a
10	TCF7L2	chr8:59412700-59413492	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:59413577-59413627	AoSMC	blood vessel:	n/a
2	chr8:59413577-59413627	NB4	blood:	n/a
3	chr8:59413577-59413627	NHDF-neo	bronchial:	n/a
4	chr8:59413577-59413627	K562	blood:	n/a
5	chr8:59413577-59413627	MCF-7	breast:	n/a
6	chr8:59413577-59413627	AG04449	skin:	fetal
7	chr8:59413577-59413627	HMEC	breast:	n/a
8	chr8:59413577-59413627	Jurkat	blood:	n/a
9	chr8:59413577-59413627	HCM	heart:	n/a
10	chr8:59413577-59413627	SK-N-MC	brain:	n/a
11	chr8:59413577-59413627	Hela-S3	cervix:	n/a
12	chr8:59413577-59413627	ECC-1	luminal epithelium:	n/a
13	chr8:59413577-59413627	HRCEpiC	kidney:	n/a
14	chr8:59413577-59413627	HAEpiC	amniotic membrane:	n/a
15	chr8:59413577-59413627	LNCaP	prostate:	n/a
16	chr8:59413577-59413627	SK-N-SH	brain:	n/a
17	chr8:59413577-59413627	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:59413577-59413627	U87	brain:	n/a
19	chr8:59413577-59413627	HRPEpiC	eye:	n/a
20	chr8:59413577-59413627	AG09309	skin:	n/a
21	chr8:59413577-59413627	PrEC	prostate:	n/a
22	chr8:59413577-59413627	HepG2	liver:	n/a
23	chr8:59413577-59413627	PANC-1	pancreas:	n/a
24	chr8:59413577-59413627	HNPCEpiC	eye:	n/a
25	chr8:59413577-59413627	NHBE	bronchial:	n/a
26	chr8:59413577-59413627	T-47D	breast:	n/a
27	chr8:59413577-59413627	GM12892	blood:	n/a
28	chr8:59413577-59413627	BE2_C	brain:	n/a
29	chr8:59413577-59413627	AG09319	gingival:	n/a
30	chr8:59413577-59413627	PFSK-1	brain:	n/a
31	chr8:59413577-59413627	HCF	heart:	n/a
32	chr8:59413577-59413627	SAEC	small airway:	n/a
33	chr8:59413577-59413627	SK-N-SH_RA	brain:	n/a
34	chr8:59413577-59413627	HEEpiC	esophagus:	n/a
35	chr8:59413577-59413627	GM12878	blood:	n/a
36	chr8:59413577-59413627	AG04450	lung:	fetal
37	chr8:59413577-59413627	GM06990	blood:	n/a
38	chr8:59413577-59413627	A549	lung:	n/a
39	chr8:59413577-59413627	NT2-D1	testis:	n/a
40	chr8:59413577-59413627	ovcar-3	ovarian:	n/a
41	chr8:59413577-59413627	MCF10A-Er-Src	breast:	n/a
42	chr8:59413577-59413627	HCPEpiC	choroid plexus:	n/a
43	chr8:59413577-59413627	AG10803	skin:	n/a
44	chr8:59413577-59413627	GM12891	blood:	n/a
45	chr8:59413577-59413627	IMR90	lung:	fetal
46	chr8:59413577-59413627	BJ	skin:	n/a
47	chr8:59413577-59413627	Caco-2	colon:	n/a
48	chr8:59413577-59413627	HIPEpiC	eye:	n/a
49	chr8:59413577-59413627	ProgFib	skin:	n/a
50	chr8:59413577-59413627	HL-60	blood:	n/a

No data

Variant related genes	Relation type
CYP7A1	TF binding region
ENSG00000254103	TF binding region
CYP7A1	CpG island
ENSG00000254103	CpG island

Extended variants
information (count: 125 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371562549	chr8:59413246-59413247	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs113548744	chr8:59413300-59413301	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs543709786	chr8:59413316-59413317	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs563291262	chr8:59413322-59413323	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs573496440	chr8:59413384-59413385	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs561222214	chr8:59413420-59413421	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs181500014	chr8:59413475-59413476	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs559006411	chr8:59413533-59413534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528199502	chr8:59413613-59413614	Weak transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
10	rs577118181	chr8:59413622-59413623	Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
11	rs186620537	chr8:59413623-59413624	Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
12	rs533048312	chr8:59413648-59413649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112025687	chr8:59413713-59413714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533415836	chr8:59413728-59413729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550449460	chr8:59413730-59413731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543110498	chr8:59413805-59413806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570404468	chr8:59413842-59413843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536043642	chr8:59413846-59413847	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs190139312	chr8:59413927-59413928	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs566150868	chr8:59413998-59413999	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs370452053	chr8:59414011-59414012	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs7840733	chr8:59414061-59414062	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs557826173	chr8:59414072-59414073	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs577972283	chr8:59414104-59414105	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs537097076	chr8:59414151-59414152	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs563400199	chr8:59414165-59414166	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs557211228	chr8:59414167-59414168	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs556299643	chr8:59414203-59414204	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs573632000	chr8:59414223-59414224	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs186741185	chr8:59414228-59414229	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs73684310	chr8:59414276-59414277	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576243874	chr8:59414284-59414285	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs572566414	chr8:59414303-59414304	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs545094341	chr8:59414326-59414327	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs79709216	chr8:59414327-59414328	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs530519277	chr8:59414344-59414345	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs12542233	chr8:59414401-59414402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs62512761	chr8:59414427-59414428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563951674	chr8:59414447-59414448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149842689	chr8:59414507-59414508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549565972	chr8:59414522-59414523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147542155	chr8:59414532-59414533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191201246	chr8:59414541-59414542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551160028	chr8:59414578-59414579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375536546	chr8:59414614-59414615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139822983	chr8:59414615-59414616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537436883	chr8:59414650-59414651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562018433	chr8:59414662-59414663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145356212	chr8:59414825-59414826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567193460	chr8:59414889-59414890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59410000-59415200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:59411800-59413800	Enhancers	HepG2	liver
3	chr8:59411800-59418400	Weak transcription	Psoas Muscle	Psoas
4	chr8:59413200-59414000	Enhancers	Liver	Liver
5	chr8:59415200-59415600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:59415600-59416400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:59416200-59416600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:59416200-59417400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:59416200-59419000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:59416400-59416600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:59416400-59416600	Enhancers	Pancreas	Pancrea
12	chr8:59416400-59417800	Enhancers	Fetal Muscle Leg	muscle
13	chr8:59416400-59418200	Enhancers	HSMMtube	muscle
14	chr8:59417000-59418200	Enhancers	Stomach Smooth Muscle	stomach

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