Variant report

Variant	rs725605
Chromosome Location	chr8:86266886-86266887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10087278	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10090196	0.81[JPT][hapmap]
rs10091566	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10095352	0.83[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10097917	0.89[ASN][1000 genomes]
rs10504812	0.90[JPT][hapmap]
rs10504813	0.90[JPT][hapmap]
rs10907474	0.90[JPT][hapmap]
rs11261474	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11985029	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11985733	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12544332	0.83[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs12550814	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1303806	0.86[JPT][hapmap]
rs13252971	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259399	0.81[JPT][hapmap]
rs13273654	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1390711	0.86[JPT][hapmap]
rs1390712	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1472360	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1493302	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1496526	0.84[ASN][1000 genomes]
rs1496529	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1496530	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs1496531	0.83[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1496532	0.83[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1532423	0.83[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532424	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543852	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1553015	0.86[JPT][hapmap]
rs16913721	0.81[JPT][hapmap]
rs17042	0.90[JPT][hapmap]
rs1908075	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1995056	0.81[JPT][hapmap]
rs1995057	0.86[CHB][hapmap]
rs1995058	0.86[JPT][hapmap]
rs2006767	0.81[JPT][hapmap]
rs2055077	0.90[JPT][hapmap]
rs20571	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2072696	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2173044	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2220972	0.83[ASN][1000 genomes]
rs2279701	0.82[CHB][hapmap]
rs2291787	0.86[CHB][hapmap]
rs2307075	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs2403104	0.85[JPT][hapmap]
rs2453868	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2548281	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2645047	0.83[ASN][1000 genomes]
rs2645049	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2645053	0.80[ASN][1000 genomes]
rs3087782	0.90[JPT][hapmap]
rs3758076	0.83[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap]
rs3758077	0.80[ASN][1000 genomes]
rs3808538	0.81[JPT][hapmap]
rs3808539	0.86[JPT][hapmap]
rs4566	0.83[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.81[ASN][1000 genomes]
rs4739700	0.81[JPT][hapmap]
rs4740044	0.81[JPT][hapmap]
rs4740049	0.86[JPT][hapmap]
rs6605611	0.81[CHB][hapmap]
rs6988475	0.83[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap]
rs6993387	0.81[JPT][hapmap]
rs6997458	0.83[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7000950	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7008772	0.81[JPT][hapmap]
rs7011926	0.86[JPT][hapmap]
rs7016369	0.90[JPT][hapmap]
rs7818163	0.81[JPT][hapmap]
rs7824715	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826511	0.80[ASN][1000 genomes]
rs903895	0.86[JPT][hapmap]
rs903896	0.86[JPT][hapmap]
rs903897	0.86[JPT][hapmap]
rs931505	0.90[JPT][hapmap]
rs955007	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9969643	0.83[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9987281	0.86[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh 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	15 gene(s)	inside rSNPs	diseases
8	nsv982000	chr8:86266758-86267370	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86262600-86267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:86264800-86267000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:86265200-86283200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:86265400-86267000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:86265400-86267000	Weak transcription	Right Atrium	heart
6	chr8:86265400-86267200	Weak transcription	Psoas Muscle	Psoas
7	chr8:86265400-86278000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:86266200-86267600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:86266600-86267600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:86266600-86267600	Enhancers	HMEC	breast
11	chr8:86266800-86267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:86266800-86267200	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:86266800-86267200	Flanking Active TSS	NHEK	skin
14	chr8:86266800-86267400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:86266800-86267400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:86266800-86267400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:86266800-86267400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:86266800-86267400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:86266800-86267400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:86266800-86267400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:86266800-86267400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:86266800-86267400	Enhancers	HepG2	liver
23	chr8:86266800-86267600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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