Variant report

Variant	rs1385508
Chromosome Location	chr8:120051528-120051529
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
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	0.87[AFR][1000 genomes];0.94[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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955920	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955921	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11573819	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs11573828	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs11573849	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs11573870	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs11573897	1.00[CEU][hapmap];0.86[JPT][hapmap];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];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	1.00[AFR][1000 genomes];0.94[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]
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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12677975	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs12678216	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]
rs12679567	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1385507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485311	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891854	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891856	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891859	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891861	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891864	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891869	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891872	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891875	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891907	0.94[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];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[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];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[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	0.81[AFR][1000 genomes];0.94[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	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4437685	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4565488	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56764969	0.90[EUR][1000 genomes]
rs56862071	0.87[AFR][1000 genomes];0.94[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	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58732819	0.88[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	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60012832	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60335297	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60360696	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60727179	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61364754	0.87[AFR][1000 genomes];0.94[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	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61706918	0.88[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	0.94[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	0.86[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	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9642843	0.90[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	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
4	nsv437631	chr8:120015963-120051656	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120049400-120053000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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