Variant report

Variant	rs73709519
Chromosome Location	chr8:120006821-120006822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:120006667-120006898	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
COLEC10	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10505350	0.92[ASN][1000 genomes]
rs10505352	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955918	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955920	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955921	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11573819	0.95[EUR][1000 genomes]
rs11573828	0.95[EUR][1000 genomes]
rs11573849	0.95[EUR][1000 genomes]
rs11573870	0.95[EUR][1000 genomes]
rs11573897	0.95[EUR][1000 genomes]
rs11573905	0.95[EUR][1000 genomes]
rs11985044	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986345	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11987514	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11987528	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990877	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11992072	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992370	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11994357	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056401	0.88[ASN][1000 genomes]
rs12056490	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12056749	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12675217	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12676636	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12677367	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12677975	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12678216	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12679567	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12680862	0.86[EUR][1000 genomes]
rs12681528	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1385507	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1385508	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1485311	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16891854	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891856	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891859	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891861	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891864	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891869	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891872	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891875	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891907	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16891911	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16891913	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16891914	0.88[ASN][1000 genomes]
rs16891916	0.88[ASN][1000 genomes]
rs17758108	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17758126	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17758162	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17758186	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17758222	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17758258	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17758330	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17831135	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17831147	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17831171	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17831322	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3924060	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4437685	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4565488	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56655201	0.86[EUR][1000 genomes]
rs56764969	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56862071	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57733873	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58729255	0.86[EUR][1000 genomes]
rs58732819	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59027630	0.87[ASN][1000 genomes]
rs59943296	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60012832	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60335297	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60360696	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60727179	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61280141	0.84[ASN][1000 genomes]
rs61364754	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61679139	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61706918	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469791	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6996974	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73709526	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73711408	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73711412	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7823809	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7826524	0.92[ASN][1000 genomes]
rs7829123	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7835846	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7837123	0.82[ASN][1000 genomes]
rs923100	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9642843	1.00[EUR][1000 genomes];0.88[ASN][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	nsv522241	chr8:119995697-120027871	Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120006400-120008400	Enhancers	Fetal Heart	heart
2	chr8:120006800-120007000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:120006800-120007000	Enhancers	Right Ventricle	heart
4	chr8:120006800-120007400	Enhancers	HSMMtube	muscle
5	chr8:120006800-120008000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:120006800-120008200	Enhancers	Osteobl	bone

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