Variant report

Variant	rs28661703
Chromosome Location	chr4:87810520-87810521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87799265..87800918-chr4:87810195..87812041,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10029698	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10034541	0.90[EUR][1000 genomes]
rs1075989	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12186239	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13103212	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13114907	0.89[EUR][1000 genomes]
rs13117826	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13131035	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13131194	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13134746	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13143520	0.89[EUR][1000 genomes]
rs13147739	0.85[EUR][1000 genomes]
rs13147942	0.94[EUR][1000 genomes]
rs13151671	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13151797	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13434404	0.90[EUR][1000 genomes]
rs2705623	0.94[EUR][1000 genomes]
rs28407685	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28439108	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28447475	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28457189	0.90[EUR][1000 genomes]
rs28458234	0.90[EUR][1000 genomes]
rs28502831	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28594717	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28610346	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28620528	0.89[EUR][1000 genomes]
rs28629974	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28664715	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28706796	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28729679	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28854225	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28886889	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34991149	0.90[EUR][1000 genomes]
rs35480728	0.89[EUR][1000 genomes]
rs35667731	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36053558	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4693788	0.83[EUR][1000 genomes]
rs71605624	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71605686	0.94[EUR][1000 genomes]
rs71605687	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71605688	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71605691	0.96[EUR][1000 genomes]
rs71605693	0.89[EUR][1000 genomes]
rs7683045	0.94[EUR][1000 genomes]
rs9993812	0.90[EUR][1000 genomes]
rs9999001	0.87[EUR][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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87801600-87811800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:87803200-87811800	Weak transcription	NHEK	skin
3	chr4:87804200-87812600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:87806800-87811800	Weak transcription	Fetal Lung	lung
5	chr4:87806800-87812000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:87806800-87812600	Weak transcription	Adipose Nuclei	Adipose
7	chr4:87806800-87813000	Weak transcription	Left Ventricle	heart
8	chr4:87807200-87812800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:87807600-87811000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:87808200-87811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:87808200-87811800	Weak transcription	Pancreas	Pancrea
12	chr4:87808200-87812000	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:87808200-87812200	Weak transcription	Fetal Intestine Large	intestine
14	chr4:87808200-87812600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:87808600-87812200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:87809200-87810800	Enhancers	HUVEC	blood vessel
17	chr4:87809200-87811800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:87809200-87812000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:87809200-87812000	Weak transcription	Placenta	Placenta
20	chr4:87809400-87811800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:87810200-87811400	Weak transcription	HMEC	breast
22	chr4:87810400-87812000	Weak transcription	Esophagus	oesophagus

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