Variant report

Variant	rs12678110
Chromosome Location	chr8:48562090-48562091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48561257..48563668-chr8:48585087..48588007,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10957549	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10957644	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10958058	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1106607	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11778548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11784823	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs12544329	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12549996	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12675378	0.91[EUR][1000 genomes]
rs16928696	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2129617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2129618	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2130411	0.83[CEU][hapmap]
rs2130412	0.90[EUR][1000 genomes]
rs2130413	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4489323	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4536257	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4608108	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873368	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs4873395	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873399	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4873437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4873507	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873529	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55941013	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56092229	0.95[EUR][1000 genomes]
rs62539116	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62539144	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62539147	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62539150	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6982620	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6987043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989917	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014443	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7827571	0.82[CEU][hapmap]
rs876915	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs923499	0.88[EUR][1000 genomes]

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:32 , 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	chr8:48546400-48562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:48551800-48571400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:48552000-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:48552000-48564800	Weak transcription	HSMM	muscle
7	chr8:48552800-48564400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:48552800-48571600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:48553400-48565600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:48554800-48564000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:48554800-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:48554800-48566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:48554800-48571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:48554800-48571600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:48555400-48572200	Weak transcription	Fetal Intestine Small	intestine
16	chr8:48555400-48573800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:48556800-48565000	Weak transcription	A549	lung
18	chr8:48557600-48564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:48557600-48571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:48558000-48564800	Weak transcription	Psoas Muscle	Psoas
21	chr8:48558000-48570400	Weak transcription	Left Ventricle	heart
22	chr8:48558000-48571000	Weak transcription	Right Atrium	heart
23	chr8:48558200-48570400	Weak transcription	Pancreas	Pancrea
24	chr8:48560600-48564600	Weak transcription	HMEC	breast
25	chr8:48560600-48564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:48560600-48564800	Weak transcription	Esophagus	oesophagus
27	chr8:48560600-48571200	Weak transcription	Placenta	Placenta
28	chr8:48560800-48564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:48560800-48564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:48561200-48564400	Weak transcription	NHEK	skin
31	chr8:48562000-48562600	Enhancers	Brain Hippocampus Middle	brain
32	chr8:48562000-48562800	Enhancers	Brain Substantia Nigra	brain

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