Variant report

Variant	rs12678216
Chromosome Location	chr8:120062728-120062729
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	chr8:120042204..120043782-chr8:120062419..120064924,2	MCF-7	breast:
2	chr8:119962454..119964132-chr8:120061340..120063635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164761	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10505350	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10505352	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955917	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10955918	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955920	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955921	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11573819	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11573828	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11573849	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11573870	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11573897	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11573905	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs11985044	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11986345	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11987514	0.90[EUR][1000 genomes]
rs11987528	0.90[EUR][1000 genomes]
rs11990877	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11992045	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11992070	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11992072	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11992370	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11992916	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11994357	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12056401	1.00[ASN][1000 genomes]
rs12056490	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs12056749	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056908	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12675217	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs12676636	0.90[EUR][1000 genomes]
rs12677367	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12677975	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12679567	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681528	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1385507	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385508	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485311	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891854	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891856	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891859	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891861	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891864	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891869	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891872	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891875	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891907	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891914	1.00[ASN][1000 genomes]
rs16891916	1.00[ASN][1000 genomes]
rs17758108	0.90[EUR][1000 genomes]
rs17758126	0.90[EUR][1000 genomes]
rs17758162	0.90[EUR][1000 genomes]
rs17758186	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17758222	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17758258	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17758330	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17831135	0.90[EUR][1000 genomes]
rs17831147	0.90[EUR][1000 genomes]
rs17831171	0.90[EUR][1000 genomes]
rs17831322	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3812490	0.82[CHB][hapmap]
rs3924060	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4437685	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4565488	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56764969	0.90[EUR][1000 genomes]
rs56862071	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57379044	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57733873	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58732819	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59437722	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59943296	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60012832	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60335297	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60360696	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60727179	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61364754	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61605021	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61679139	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61706918	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469791	0.90[EUR][1000 genomes]
rs6996974	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73709519	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73709526	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73711408	0.90[EUR][1000 genomes]
rs73711412	0.90[EUR][1000 genomes]
rs7823809	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7826524	0.80[ASN][1000 genomes]
rs7829123	0.90[EUR][1000 genomes]
rs7835846	0.90[EUR][1000 genomes]
rs7837123	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs923100	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9642843	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120054800-120066400	Enhancers	Hela-S3	cervix
2	chr8:120056200-120063200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:120056200-120063400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:120059000-120063000	Weak transcription	NH-A	brain
5	chr8:120059000-120063600	Weak transcription	HUVEC	blood vessel
6	chr8:120059800-120062800	Weak transcription	Osteobl	bone
7	chr8:120059800-120063600	Weak transcription	Fetal Brain Male	brain
8	chr8:120059800-120067400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:120060000-120062800	Weak transcription	NHDF-Ad	bronchial
10	chr8:120060000-120063400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:120060000-120063400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:120060200-120063400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:120060600-120062800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:120062400-120063000	Weak transcription	NHLF	lung

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