Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20318146..20319802-chr2:20331839..20334216,2	MCF-7	breast:
2	chr2:20276643..20279020-chr2:20317223..20319754,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10193851	0.82[CHB][hapmap]
rs10205345	0.82[CHB][hapmap]
rs11900871	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11903770	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs13384258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13389730	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs13398487	0.82[CHB][hapmap]
rs13408734	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13414082	0.82[CHB][hapmap]
rs13415910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13423586	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13424750	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13424960	0.84[EUR][1000 genomes]
rs13429364	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16987383	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16987387	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs28623398	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59086150	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73223882	0.86[EUR][1000 genomes]
rs73225754	0.86[EUR][1000 genomes]
rs7586565	0.82[CHB][hapmap]
rs9306889	1.00[CEU][hapmap];0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3323329	chr2:20314271-20318569	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20314200-20322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:20316400-20322000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:20316600-20318600	Weak transcription	Esophagus	oesophagus
5	chr2:20316800-20320200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:20316800-20320400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:20316800-20320600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:20317000-20320600	Weak transcription	Stomach Mucosa	stomach
9	chr2:20318000-20318600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:20318200-20318800	Enhancers	Right Ventricle	heart
11	chr2:20318400-20320400	Weak transcription	Placenta	Placenta

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