Variant report

Variant	rs62525922
Chromosome Location	chr8:131281211-131281212
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131279813..131282288-chr8:131286775..131289036,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10091130	0.81[EUR][1000 genomes]
rs10109236	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10505548	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10505549	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956513	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956515	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956517	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779014	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11781752	0.81[ASN][1000 genomes]
rs11786705	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12541083	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12542411	0.91[AFR][1000 genomes]
rs12545910	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12547397	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12547540	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12675390	0.81[ASN][1000 genomes]
rs12675543	0.91[AFR][1000 genomes]
rs12676836	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12679283	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12681954	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12681955	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1417007	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1469286	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1549455	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16893271	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16904208	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904212	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16904219	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16904223	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16904231	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904239	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904241	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904242	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16904249	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1960661	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1974313	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2027377	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36004574	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3812476	0.95[AFR][1000 genomes]
rs4733573	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733771	1.00[AFR][1000 genomes]
rs4733772	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733782	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4733783	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733788	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57198371	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59297824	0.82[AFR][1000 genomes]
rs62524635	0.95[AFR][1000 genomes]
rs62524643	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62524644	0.83[ASN][1000 genomes]
rs62524647	0.81[ASN][1000 genomes]
rs62524649	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62525884	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62525885	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62525888	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62525889	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62525921	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62525927	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62525928	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6415511	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6415513	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6415514	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470813	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6470814	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6991714	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6996469	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6999216	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7006336	0.82[ASN][1000 genomes]
rs716077	0.91[AFR][1000 genomes]
rs72722366	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72722371	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72724420	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72724433	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs754021	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9297806	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131257400-131281600	Weak transcription	Gastric	stomach
3	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
5	chr8:131268800-131281400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:131270600-131291200	Weak transcription	Liver	Liver
8	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
9	chr8:131272400-131281400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:131275600-131281400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:131276400-131281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:131276800-131282000	Enhancers	NHDF-Ad	bronchial
15	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
16	chr8:131277000-131281400	Weak transcription	Aorta	Aorta
17	chr8:131277000-131282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:131277000-131288200	Weak transcription	K562	blood
19	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
20	chr8:131277600-131281400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:131277600-131282200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
24	chr8:131278400-131281400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:131278400-131281400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:131278400-131281400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:131278400-131281400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
29	chr8:131278600-131281400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:131278600-131281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:131278600-131281600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:131278600-131282000	Weak transcription	Lung	lung
33	chr8:131278600-131282200	Enhancers	A549	lung
34	chr8:131278600-131283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:131278600-131283200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:131278600-131289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:131278600-131289200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:131278800-131283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:131279000-131282800	Weak transcription	HMEC	breast
40	chr8:131279200-131282600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr8:131279400-131281400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:131279400-131282000	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:131279600-131282000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:131279600-131282400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:131279600-131282400	Enhancers	Fetal Stomach	stomach
46	chr8:131279600-131282600	Enhancers	Colon Smooth Muscle	Colon
47	chr8:131279600-131282600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:131279600-131282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:131279600-131284000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:131279800-131281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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