Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26326842..26329706-chr12:26330905..26334715,3	K562	blood:
2	chr12:26308693..26311647-chr12:26329505..26331946,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10743574	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771263	0.82[ASN][1000 genomes]
rs10842682	0.81[ASN][1000 genomes]
rs12314653	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12315774	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12316258	0.95[ASN][1000 genomes]
rs12809441	0.86[ASN][1000 genomes]
rs1480036	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs16930176	0.80[EUR][1000 genomes]
rs16930227	0.82[EUR][1000 genomes]
rs17380837	0.80[CHB][hapmap]
rs2343865	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35878200	0.80[EUR][1000 genomes]
rs55830812	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57252419	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59864950	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61914465	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7953277	0.80[EUR][1000 genomes]
rs7955859	0.95[ASN][1000 genomes]
rs7958409	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976236	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978769	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs875295	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26328200-26331200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:26329200-26331000	Enhancers	Fetal Intestine Small	intestine
3	chr12:26329200-26331200	Enhancers	Fetal Intestine Large	intestine
4	chr12:26329400-26331200	Enhancers	Small Intestine	intestine
5	chr12:26329800-26331000	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:26330600-26331400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:26330600-26332400	Weak transcription	Stomach Mucosa	stomach
8	chr12:26330800-26337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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