Variant report

Variant	rs2028244
Chromosome Location	chr8:105671092-105671093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105665119..105666713-chr8:105669942..105672680,2	K562	blood:
2	chr8:105647711..105650674-chr8:105669105..105672035,2	K562	blood:
3	chr8:105671044..105673505-chr8:105675145..105677961,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10505062	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs10955352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11777528	0.83[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11782865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783651	0.82[CEU][hapmap]
rs11784193	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11989936	0.83[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11995774	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677524	1.00[JPT][hapmap]
rs12678904	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs12678962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12680250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249169	1.00[JPT][hapmap]
rs13250948	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs13265309	0.83[CEU][hapmap]
rs13266321	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13266739	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs13268122	1.00[JPT][hapmap]
rs13268597	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13279448	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs16871500	0.83[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs16871634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28481880	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs35328383	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35465370	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236775	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4338071	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4593510	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs4734803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59294667	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468939	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67712332	0.85[ASN][1000 genomes]
rs6990243	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6993149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994764	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7004507	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7010576	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465442	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815871	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821181	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7823671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7834086	0.83[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7841202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842204	0.81[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7845137	0.83[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs9694676	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105667400-105671400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:105667400-105671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:105667800-105671400	Weak transcription	NHLF	lung
4	chr8:105667800-105671600	Weak transcription	NH-A	brain
5	chr8:105667800-105674200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:105667800-105674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:105668000-105671400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:105668000-105674400	Weak transcription	HMEC	breast
9	chr8:105668000-105674600	Weak transcription	NHEK	skin
10	chr8:105668200-105671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:105668400-105671200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:105669600-105671200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:105669600-105671200	Weak transcription	HSMM	muscle
14	chr8:105669800-105671800	Enhancers	K562	blood
15	chr8:105670400-105673800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:105670600-105671800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:105670600-105672200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:105670800-105675400	Enhancers	NHDF-Ad	bronchial
19	chr8:105671000-105672000	Enhancers	HSMMtube	muscle
20	chr8:105671000-105672400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:105671000-105672600	Enhancers	Osteobl	bone

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