Variant report

Variant	esv3415602
Chromosome Location	chr8:58172482-58172951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:58172756-58172829	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:58172667-58172749	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58172571-58172621	BJ	skin:	n/a
2	chr8:58172571-58172621	GM19239	blood:	n/a
3	chr8:58172571-58172621	HMEC	breast:	n/a
4	chr8:58172571-58172621	SK-N-MC	brain:	n/a
5	chr8:58172643-58172693	GM19239	blood:	n/a
6	chr8:58172855-58172905	SKMC	muscle:	n/a
7	chr8:58172855-58172905	A549	lung:	n/a
8	chr8:58172571-58172621	ProgFib	skin:	n/a
9	chr8:58172643-58172693	HUVEC	blood vessel:	n/a
10	chr8:58172855-58172905	NHBE	bronchial:	n/a
11	chr8:58172643-58172693	HCPEpiC	choroid plexus:	n/a
12	chr8:58172643-58172693	NT2-D1	testis:	n/a
13	chr8:58172643-58172693	MCF10A-Er-Src	breast:	n/a
14	chr8:58172571-58172621	MCF-7	breast:	n/a
15	chr8:58172855-58172905	MCF-7	breast:	n/a
16	chr8:58172855-58172905	HRCEpiC	kidney:	n/a
17	chr8:58172571-58172621	GM12891	blood:	n/a
18	chr8:58172643-58172693	GM12892	blood:	n/a
19	chr8:58172643-58172693	GM12891	blood:	n/a
20	chr8:58172855-58172905	HMEC	breast:	n/a
21	chr8:58172643-58172693	RPTEC	kidney:	n/a
22	chr8:58172855-58172905	GM12891	blood:	n/a
23	chr8:58172855-58172905	ProgFib	skin:	n/a
24	chr8:58172855-58172905	HRPEpiC	eye:	n/a
25	chr8:58172855-58172905	Caco-2	colon:	n/a
26	chr8:58172855-58172905	SAEC	small airway:	n/a
27	chr8:58172855-58172905	HUVEC	blood vessel:	n/a
28	chr8:58172643-58172693	HMEC	breast:	n/a
29	chr8:58172571-58172621	HCT-116	colon:	n/a
30	chr8:58172855-58172905	SK-N-SH_RA	brain:	n/a
31	chr8:58172855-58172905	HCM	heart:	n/a
32	chr8:58172643-58172693	HRCEpiC	kidney:	n/a
33	chr8:58172855-58172905	AG09309	skin:	n/a
34	chr8:58172571-58172621	AG09319	gingival:	n/a
35	chr8:58172643-58172693	BJ	skin:	n/a
36	chr8:58172571-58172621	HepG2	liver:	n/a
37	chr8:58172571-58172621	H1-hESC	embryonic stem cell:	embryo
38	chr8:58172571-58172621	PrEC	prostate:	n/a
39	chr8:58172643-58172693	IMR90	lung:	fetal
40	chr8:58172643-58172693	PFSK-1	brain:	n/a
41	chr8:58172855-58172905	ovcar-3	ovarian:	n/a
42	chr8:58172643-58172693	SAEC	small airway:	n/a
43	chr8:58172643-58172693	NB4	blood:	n/a
44	chr8:58172643-58172693	AG09319	gingival:	n/a
45	chr8:58172571-58172621	A549	lung:	n/a
46	chr8:58172855-58172905	AoSMC	blood vessel:	n/a
47	chr8:58172643-58172693	HEEpiC	esophagus:	n/a
48	chr8:58172571-58172621	HUVEC	blood vessel:	n/a
49	chr8:58172643-58172693	HNPCEpiC	eye:	n/a
50	chr8:58172855-58172905	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000253614	TF binding region
ENSG00000253614	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73607868	chr8:58172482-58172483	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372686832	chr8:58172488-58172489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187924450	chr8:58172492-58172493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553588224	chr8:58172517-58172518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570399495	chr8:58172538-58172539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs373093254	chr8:58172553-58172554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376138044	chr8:58172589-58172590	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs539455115	chr8:58172608-58172609	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs568222162	chr8:58172609-58172610	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs34915917	chr8:58172643-58172644	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs556479310	chr8:58172644-58172645	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs73607869	chr8:58172665-58172666	ZNF genes & repeats	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192401641	chr8:58172719-58172720	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374164725	chr8:58172737-58172738	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572152308	chr8:58172744-58172745	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540695106	chr8:58172756-58172757	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560399197	chr8:58172771-58172772	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546985148	chr8:58172777-58172778	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs149041485	chr8:58172798-58172799	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs545824118	chr8:58172813-58172814	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs386725803	chr8:58172816-58172817	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs116564484	chr8:58172818-58172819	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs370178718	chr8:58172839-58172840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184613816	chr8:58172846-58172847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs66936919	chr8:58172868-58172869	ZNF genes & repeats	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527899290	chr8:58172895-58172896	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs189179725	chr8:58172934-58172935	ZNF genes & repeats	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58170400-58173000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:58171800-58173000	ZNF genes & repeats	Spleen	Spleen
3	chr8:58172200-58173600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:58172400-58173800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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