Variant report

Variant	rs6114086
Chromosome Location	chr20:23422479-23422480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23400976..23401856-chr20:23422235..23423058,2	MCF-7	breast:
2	chr20:23415648..23417559-chr20:23421207..23423158,2	MCF-7	breast:
3	chr20:23422154..23423090-chr20:23586925..23587808,6	MCF-7	breast:
4	chr20:23329921..23332820-chr20:23421116..23423226,2	MCF-7	breast:
5	chr20:23421799..23423146-chr20:23586414..23588198,22	MCF-7	breast:
6	chr20:23422166..23423021-chr20:23565222..23566039,3	MCF-7	breast:
7	chr20:23422153..23424654-chr20:23586384..23588911,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132661	Chromatin interaction
ENSG00000173335	Chromatin interaction
ENSG00000234832	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11908625	1.00[CHD][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1203994	0.87[ASN][1000 genomes]
rs2153986	0.81[ASN][1000 genomes]
rs2281433	0.93[CHD][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6036387	0.93[CHD][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs6036388	0.83[ASN][1000 genomes]
rs6036393	0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs6036394	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6036395	0.83[ASN][1000 genomes]
rs6036396	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6036400	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6036402	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048726	0.81[TSI][hapmap]
rs6048748	0.93[CHD][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs6048749	0.83[ASN][1000 genomes]
rs6048751	0.83[ASN][1000 genomes]
rs6048764	0.83[ASN][1000 genomes]
rs6048773	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048780	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6048782	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048783	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048785	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048787	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048789	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048791	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048792	0.98[ASN][1000 genomes]
rs6048793	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048794	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6076060	0.93[CHD][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs6076061	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6076069	0.93[CHD][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083082	0.93[CHD][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs6083091	0.83[ASN][1000 genomes]
rs6083109	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083120	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083125	1.00[CHD][hapmap];1.00[LWK][hapmap];0.85[TSI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6106650	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6106652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114053	0.82[TSI][hapmap]
rs6114078	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73303309	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73319497	0.83[ASN][1000 genomes]
rs7351246	0.83[TSI][hapmap]
rs7361799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8119387	0.95[EUR][1000 genomes];0.92[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	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417000-23422800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23417200-23434800	Weak transcription	Gastric	stomach
3	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
4	chr20:23421200-23427200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:23422200-23422600	Bivalent Enhancer	HepG2	liver
6	chr20:23422400-23422600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23422400-23422600	Flanking Active TSS	A549	lung
8	chr20:23422400-23422800	Enhancers	Brain Anterior Caudate	brain
9	chr20:23422400-23423000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr20:23422400-23423000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr20:23422400-23423000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr20:23422400-23423600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:23422400-23426400	Enhancers	Fetal Thymus	thymus

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