Variant report

Variant	rs16892077
Chromosome Location	chr8:120126240-120126241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120123252..120128065-chr8:120218865..120222398,4	MCF-7	breast:
2	chr8:120123624..120126325-chr8:120143117..120145371,2	MCF-7	breast:
3	chr8:120125607..120126448-chr8:124225021..124225816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1064556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1064557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13260242	0.81[JPT][hapmap]
rs1601394	0.87[ASN][1000 genomes]
rs16891948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16891954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16891962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16891984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16892035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16892053	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs16892088	1.00[ASN][1000 genomes]
rs16892098	0.85[AFR][1000 genomes]
rs16892190	0.96[ASN][1000 genomes]
rs3829047	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs56095688	0.98[ASN][1000 genomes]
rs56940872	0.96[ASN][1000 genomes]
rs57031367	0.93[ASN][1000 genomes]
rs57099703	0.98[ASN][1000 genomes]
rs57938217	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58035790	0.96[ASN][1000 genomes]
rs58881257	0.85[AFR][1000 genomes]
rs59545571	0.95[ASN][1000 genomes]
rs60191681	0.97[ASN][1000 genomes]
rs60449953	0.98[ASN][1000 genomes]
rs60665520	0.98[ASN][1000 genomes]
rs61390727	0.98[ASN][1000 genomes]
rs6469809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981320	0.98[ASN][1000 genomes]
rs6984886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6989684	0.85[AFR][1000 genomes]
rs6990729	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004816	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73325487	0.81[ASN][1000 genomes]
rs73327248	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73327249	0.99[ASN][1000 genomes]
rs73327257	1.00[ASN][1000 genomes]
rs73327262	0.99[ASN][1000 genomes]
rs73327264	1.00[ASN][1000 genomes]
rs73327271	0.99[ASN][1000 genomes]
rs73709632	0.98[ASN][1000 genomes]
rs73712719	0.98[ASN][1000 genomes]
rs7825193	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7828020	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1804892	chr8:120120429-120161140	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1810588	chr8:120120429-120168446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1808446	chr8:120120901-120168446	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv521945	chr8:120125966-120127586	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120124600-120129200	Enhancers	NHEK	skin
2	chr8:120124800-120126400	Enhancers	Fetal Intestine Large	intestine
3	chr8:120124800-120127200	Enhancers	Duodenum Mucosa	Duodenum
4	chr8:120124800-120127200	Enhancers	Stomach Mucosa	stomach
5	chr8:120125200-120126400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:120125600-120129200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:120125800-120126400	Enhancers	Small Intestine	intestine
8	chr8:120126000-120127600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr8:120126000-120129400	Enhancers	HMEC	breast
10	chr8:120126200-120127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:120126200-120128600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:120126200-120129200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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