Variant report

Variant	rs685388
Chromosome Location	chr6:161391546-161391547
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	chr6:161376616..161379029-chr6:161389895..161392402,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12173735	0.93[ASN][1000 genomes]
rs2872613	0.84[TSI][hapmap]
rs4709491	0.84[TSI][hapmap]
rs4709495	0.84[TSI][hapmap]
rs587501	0.88[EUR][1000 genomes]
rs601939	0.98[ASN][1000 genomes]
rs615269	0.87[EUR][1000 genomes]
rs619393	0.88[EUR][1000 genomes]
rs628430	0.85[EUR][1000 genomes]
rs647923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs655605	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs657551	0.80[EUR][1000 genomes]
rs662541	0.81[EUR][1000 genomes]
rs668638	0.88[EUR][1000 genomes]
rs672043	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs679240	0.90[ASN][1000 genomes]
rs681455	0.90[ASN][1000 genomes]
rs683549	0.82[EUR][1000 genomes]
rs9347476	0.84[ASN][1000 genomes]
rs9355324	0.86[ASN][1000 genomes]
rs9355326	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs9355332	0.84[TSI][hapmap]
rs9355858	0.92[ASN][1000 genomes]
rs9355863	0.86[ASN][1000 genomes]
rs9355864	0.86[ASN][1000 genomes]
rs9364586	0.84[TSI][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	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161372800-161394000	Weak transcription	Right Atrium	heart
2	chr6:161389200-161392600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:161390800-161394200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:161391000-161393400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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