Variant report

Variant	rs10094128
Chromosome Location	chr8:48559397-48559398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48554598..48556958-chr8:48557992..48560714,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10109113	0.80[EUR][1000 genomes]
rs10441581	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10958058	0.83[CEU][hapmap]
rs1106607	0.83[CEU][hapmap]
rs11784823	0.82[CEU][hapmap]
rs12544329	0.82[CEU][hapmap]
rs12549996	0.83[CEU][hapmap]
rs12674784	0.88[JPT][hapmap]
rs13279327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs1542721	0.87[JPT][hapmap]
rs16930163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16930230	0.87[JPT][hapmap]
rs2029239	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2130411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2130413	0.82[CEU][hapmap]
rs4436571	0.83[EUR][1000 genomes]
rs4486659	0.83[EUR][1000 genomes]
rs4594029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4608108	0.82[CEU][hapmap]
rs4873368	0.83[CEU][hapmap]
rs4873386	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873395	0.82[CEU][hapmap]
rs4873446	0.84[EUR][1000 genomes]
rs4873463	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[EUR][1000 genomes]
rs4873478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6472450	0.83[YRI][hapmap]
rs6472452	0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap]
rs6982620	0.82[CEU][hapmap]
rs6986054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7462209	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7827571	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7830859	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7833589	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7842068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs876915	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:48543800-48559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:48546200-48562000	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:48546400-48562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:48551800-48571400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:48552000-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:48552000-48564800	Weak transcription	HSMM	muscle
9	chr8:48552800-48564400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:48552800-48571600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:48553400-48565600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:48554800-48559400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:48554800-48564000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:48554800-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:48554800-48566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:48554800-48571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:48554800-48571600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:48555400-48572200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:48555400-48573800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:48556800-48565000	Weak transcription	A549	lung
21	chr8:48557000-48559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:48557000-48560200	Weak transcription	Esophagus	oesophagus
23	chr8:48557600-48559800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:48557600-48560800	Weak transcription	Fetal Stomach	stomach
25	chr8:48557600-48564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:48557600-48571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:48557800-48559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:48558000-48559800	Weak transcription	NHEK	skin
29	chr8:48558000-48564800	Weak transcription	Psoas Muscle	Psoas
30	chr8:48558000-48570400	Weak transcription	Left Ventricle	heart
31	chr8:48558000-48571000	Weak transcription	Right Atrium	heart
32	chr8:48558200-48559800	Weak transcription	Placenta	Placenta
33	chr8:48558200-48570400	Weak transcription	Pancreas	Pancrea

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