Variant report

Variant	rs72659056
Chromosome Location	chr8:62621900-62621901
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62620828..62625218-chr8:62625341..62628340,6	MCF-7	breast:
2	chr8:62603961..62607952-chr8:62619121..62622115,3	MCF-7	breast:
3	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62621847..62624556-chr8:62711277..62713553,2	K562	blood:
6	chr8:62620565..62623407-chr8:62786770..62788455,2	K562	blood:
7	chr8:62620081..62623599-chr8:62678566..62680861,4	K562	blood:
8	chr8:62593269..62596613-chr8:62619395..62622846,3	K562	blood:
9	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
10	chr8:62567262..62573065-chr8:62621554..62624953,7	K562	blood:
11	chr8:62564124..62567084-chr8:62621412..62624391,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251127	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000264408	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10094729	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10098830	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10103451	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10110165	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10112762	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11775077	0.85[AFR][1000 genomes]
rs11784377	0.82[EUR][1000 genomes]
rs11787089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927809	0.80[EUR][1000 genomes]
rs3765162	0.81[AFR][1000 genomes]
rs4737591	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4737592	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55720422	0.82[AFR][1000 genomes]
rs61430496	0.87[AMR][1000 genomes]
rs6471969	0.82[AFR][1000 genomes]
rs7013535	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7015761	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7016408	0.83[AFR][1000 genomes]
rs7018102	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72659032	0.82[AFR][1000 genomes]
rs72659057	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72659059	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7816208	0.83[AFR][1000 genomes]
rs7825861	0.82[AFR][1000 genomes]
rs7834478	0.83[AFR][1000 genomes]
rs7836999	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:62613000-62624600	Weak transcription	Brain Germinal Matrix	brain
4	chr8:62613000-62626400	Weak transcription	Lung	lung
5	chr8:62613800-62622000	Weak transcription	Fetal Lung	lung
6	chr8:62613800-62622400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:62613800-62622800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:62613800-62623000	Weak transcription	Brain Angular Gyrus	brain
9	chr8:62613800-62623200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
11	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
12	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
13	chr8:62614000-62622200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:62614000-62624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:62617600-62624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:62617800-62624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:62618400-62622200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:62618400-62624600	Enhancers	Rectal Smooth Muscle	rectum
19	chr8:62618600-62624200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:62618800-62623000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:62619000-62622600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:62619000-62622800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:62619000-62622800	Enhancers	NHEK	skin
24	chr8:62619200-62624600	Weak transcription	Fetal Thymus	thymus
25	chr8:62619200-62625000	Enhancers	Fetal Heart	heart
26	chr8:62619400-62623000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:62619600-62623400	Weak transcription	Fetal Brain Male	brain
28	chr8:62619800-62622800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:62619800-62623200	Enhancers	HMEC	breast
30	chr8:62620000-62623600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:62620000-62623600	Transcr. at gene 5' and 3'	A549	lung
32	chr8:62620000-62624400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:62620000-62624600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:62620200-62624600	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:62620400-62622000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:62620400-62622000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:62620400-62622000	Enhancers	NHDF-Ad	bronchial
38	chr8:62620400-62623600	Enhancers	HSMMtube	muscle
39	chr8:62620600-62623000	Weak transcription	Fetal Brain Female	brain
40	chr8:62620600-62623200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:62620600-62623600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:62620600-62624200	Enhancers	HSMM	muscle
43	chr8:62620800-62623800	Enhancers	HUVEC	blood vessel
44	chr8:62620800-62624000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:62620800-62624200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:62621000-62623200	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:62621000-62623400	Enhancers	Stomach Mucosa	stomach
48	chr8:62621000-62623600	Flanking Active TSS	NH-A	brain
49	chr8:62621000-62624200	Enhancers	Liver	Liver
50	chr8:62621200-62622000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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