Variant report

Variant	rs2599703
Chromosome Location	chr8:96089181-96089182
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96087997..96090482-chr8:96096727..96098708,2	K562	blood:
2	chr8:96081390..96083933-chr8:96088865..96090424,2	K562	blood:
3	chr8:96088443..96090157-chr8:96145920..96147559,2	MCF-7	breast:
4	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
5	chr8:96086982..96089497-chr8:96096571..96099137,3	K562	blood:
6	chr8:96087772..96089911-chr8:96238508..96240959,2	MCF-7	breast:
7	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
8	chr8:95651261..95654150-chr8:96088265..96089954,2	MCF-7	breast:
9	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11778995	1.00[ASN][1000 genomes]
rs11785698	1.00[ASN][1000 genomes]
rs1878736	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1996500	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119588	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2165496	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2165497	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2599701	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599702	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599704	0.85[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2599705	0.86[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2678825	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2678826	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2678839	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2678840	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28416970	0.99[ASN][1000 genomes]
rs2923814	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945565	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945566	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34824997	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4379417	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4641029	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471509	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471510	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471513	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471514	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471515	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6980872	1.00[ASN][1000 genomes]
rs6982086	1.00[ASN][1000 genomes]
rs7002090	1.00[ASN][1000 genomes]
rs7011768	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7011919	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs966459	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9720421	0.92[EUR][1000 genomes];0.96[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96085600-96098200	Weak transcription	Gastric	stomach
3	chr8:96085800-96089200	Weak transcription	HMEC	breast
4	chr8:96085800-96089800	Weak transcription	Spleen	Spleen
5	chr8:96086000-96092200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:96086000-96098200	Weak transcription	Thymus	Thymus
7	chr8:96087200-96089400	Weak transcription	GM12878-XiMat	blood
8	chr8:96087400-96091200	Enhancers	Primary B cells from cord blood	blood
9	chr8:96087600-96089800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:96087800-96090000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:96087800-96090200	Enhancers	NHEK	skin
12	chr8:96088000-96089200	Weak transcription	Osteobl	bone
13	chr8:96088000-96090400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:96088000-96090400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:96088000-96090800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:96088200-96090000	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:96088200-96090000	Weak transcription	Pancreas	Pancrea
18	chr8:96088200-96098000	Weak transcription	Fetal Kidney	kidney
19	chr8:96088400-96090000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:96088600-96090200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:96088600-96093800	Weak transcription	A549	lung
22	chr8:96088600-96097600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:96088600-96098000	Weak transcription	K562	blood
24	chr8:96088800-96089200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:96088800-96093600	Weak transcription	Fetal Intestine Small	intestine
26	chr8:96088800-96097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:96088800-96097600	Weak transcription	Placenta	Placenta
28	chr8:96088800-96098000	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links