Variant report

Variant	rs6691861
Chromosome Location	chr1:169882424-169882425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169881052..169883977-chr1:169885843..169888269,2	MCF-7	breast:
2	chr1:169861921..169864438-chr1:169879643..169882504,3	K562	blood:
3	chr1:169861017..169866202-chr1:169878725..169885490,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12045551	0.94[AFR][1000 genomes]
rs12125595	0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs12125679	0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs12129052	0.99[AFR][1000 genomes]
rs12130263	0.84[AFR][1000 genomes]
rs12131192	0.85[AFR][1000 genomes]
rs12133849	0.92[AFR][1000 genomes]
rs16828222	0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs16862751	0.81[AFR][1000 genomes]
rs16862843	1.00[EUR][1000 genomes]
rs16862850	1.00[EUR][1000 genomes]
rs16862862	1.00[EUR][1000 genomes]
rs28418890	1.00[EUR][1000 genomes]
rs57952001	0.84[AFR][1000 genomes]
rs61620667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671989	1.00[EUR][1000 genomes]
rs6672131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681685	0.84[AFR][1000 genomes]
rs6685386	1.00[EUR][1000 genomes]
rs6692172	0.94[AFR][1000 genomes]
rs6692182	1.00[EUR][1000 genomes]
rs7517307	1.00[EUR][1000 genomes]
rs7531533	1.00[EUR][1000 genomes]
rs7548073	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169872800-169887800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169875800-169889800	Weak transcription	Fetal Brain Female	brain
3	chr1:169876200-169903600	Weak transcription	Aorta	Aorta
4	chr1:169876600-169883000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:169876800-169883400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:169877000-169884000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:169877600-169889800	Weak transcription	Lung	lung
8	chr1:169878400-169892200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:169878400-169895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:169878600-169883600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:169878600-169895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:169880200-169892800	Weak transcription	Fetal Heart	heart
14	chr1:169881000-169884200	Weak transcription	Pancreas	Pancrea
15	chr1:169881000-169888000	Weak transcription	Fetal Brain Male	brain
16	chr1:169881400-169901000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:169882200-169892000	Weak transcription	Brain Germinal Matrix	brain
18	chr1:169882400-169882600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:169882400-169883600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:169882400-169883800	Enhancers	GM12878-XiMat	blood

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