Variant report

Variant	esv6590
Chromosome Location	chr8:58094861-58095017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:58094860-58095010	HMEC	breast:	n/a	n/a
2	CTCF	chr8:58094860-58095010	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr8:58094860-58095010	HRE	kidney:	n/a	n/a
4	CTCF	chr8:58094820-58094970	HMF	breast:	n/a	n/a
5	CTCF	chr8:58094800-58094950	HL-60	blood:	n/a	n/a
6	CTCF	chr8:58094854-58094974	GM20000	blood:	n/a	n/a
7	CTCF	chr8:58094920-58095070	RPTEC	kidney:	n/a	n/a
8	CTCF	chr8:58094880-58095030	GM06990	blood:	n/a	n/a
9	CTCF	chr8:58094880-58095030	GM12865	blood:	n/a	n/a
10	CTCF	chr8:58094820-58094970	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr8:58094840-58094990	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr8:58094854-58094979	GM10266	blood:	n/a	n/a
13	CTCF	chr8:58094811-58095028	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr8:58094880-58095030	HEK293	kidney:	n/a	n/a
15	CTCF	chr8:58095000-58095150	BE2_C	brain:	n/a	n/a
16	CTCF	chr8:58094862-58094976	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr8:58094820-58094970	HCFaa	heart:	n/a	n/a
18	CTCF	chr8:58094780-58094930	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr8:58094880-58095030	AG09309	skin:	n/a	n/a
20	CTCF	chr8:58094893-58094941	GM13976	blood:	n/a	n/a
21	CTCF	chr8:58094880-58095030	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr8:58094840-58094990	HRE	kidney:	n/a	n/a
23	CTCF	chr8:58094820-58094970	Caco-2	colon:	n/a	n/a
24	CTCF	chr8:58094860-58095010	GM12872	blood:	n/a	n/a
25	CTCF	chr8:58094860-58095010	GM12878	blood:	n/a	n/a
26	CTCF	chr8:58094780-58094930	GM12866	blood:	n/a	n/a
27	CTCF	chr8:58094820-58094970	GM12864	blood:	n/a	n/a
28	CTCF	chr8:58094860-58095010	GM12875	blood:	n/a	n/a
29	CTCF	chr8:58094780-58094930	HMF	breast:	n/a	n/a
30	CTCF	chr8:58094840-58094990	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr8:58094820-58094970	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr8:58094840-58094990	GM12869	blood:	n/a	n/a
33	CTCF	chr8:58094800-58094950	GM12873	blood:	n/a	n/a
34	CTCF	chr8:58094820-58094970	NHEK	skin:	n/a	n/a
35	CTCF	chr8:58094840-58094990	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr8:58094875-58095005	GM10248	blood:	n/a	n/a
37	CTCF	chr8:58094832-58094988	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr8:58094816-58095027	K562	blood:	n/a	n/a
39	CTCF	chr8:58094860-58095010	AG10803	skin:	n/a	n/a
40	CTCF	chr8:58094820-58094970	GM12868	blood:	n/a	n/a
41	CTCF	chr8:58094614-58095171	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr8:58094781-58095030	A549	lung:	n/a	n/a
43	CTCF	chr8:58094830-58095032	MCF-7	breast:	n/a	n/a
44	CTCF	chr8:58094853-58094951	GM13977	blood:	n/a	n/a
45	CTCF	chr8:58094819-58095044	GM12878	blood:	n/a	n/a
46	CTCF	chr8:58094740-58094890	GM12871	blood:	n/a	n/a
47	CTCF	chr8:58094800-58094950	GM12865	blood:	n/a	n/a
48	CTCF	chr8:58094840-58094990	SAEC	small airway:	n/a	n/a
49	CTCF	chr8:58094882-58094957	HepG2	liver:	n/a	n/a
50	CTCF	chr8:58094716-58095111	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:58094338..58095391-chr8:58255624..58256416,4	MCF-7	breast:
2	chr8:58094799..58095495-chr8:58255642..58256690,5	MCF-7	breast:
3	chr8:58094506..58095013-chr8:58135741..58136318,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000220984	TF binding region
ENSG00000253871	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576078680	chr8:58094868-58094869	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs541860468	chr8:58094894-58094895	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561971371	chr8:58094896-58094897	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181051210	chr8:58094957-58094958	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555024859	chr8:58094989-58094990	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564161290	chr8:58094998-58094999	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links