Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40158893..40159412-chr12:40383653..40384584,2	K562	blood:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10506143	0.81[AMR][1000 genomes]
rs10506144	0.86[AMR][1000 genomes]
rs11173598	1.00[CHB][hapmap]
rs11174631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174697	0.89[AMR][1000 genomes]
rs11174728	1.00[CHB][hapmap]
rs11174995	1.00[CHB][hapmap]
rs11175069	1.00[CHB][hapmap]
rs11175186	0.86[AMR][1000 genomes]
rs11564199	0.88[AMR][1000 genomes]
rs11564216	0.86[AMR][1000 genomes]
rs11564218	0.81[AMR][1000 genomes]
rs12422544	0.82[AMR][1000 genomes]
rs12423682	1.00[JPT][hapmap]
rs12424040	0.86[AMR][1000 genomes]
rs12424294	0.81[AMR][1000 genomes]
rs12425630	0.86[AMR][1000 genomes]
rs12426378	0.86[AMR][1000 genomes]
rs12427022	0.81[AMR][1000 genomes]
rs17458549	0.86[AMR][1000 genomes]
rs28365169	0.86[AMR][1000 genomes]
rs28365173	0.86[AMR][1000 genomes]
rs28365669	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28365689	0.86[AMR][1000 genomes]
rs28370637	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370664	0.91[AMR][1000 genomes]
rs28370682	1.00[CHB][hapmap];0.91[AMR][1000 genomes]
rs28370830	0.91[AMR][1000 genomes]
rs4767961	0.84[AMR][1000 genomes]
rs4768213	0.86[AMR][1000 genomes]
rs545385	1.00[JPT][hapmap]
rs549790	1.00[JPT][hapmap]
rs566044	1.00[JPT][hapmap]
rs729215	0.86[AMR][1000 genomes]
rs8181671	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 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	chr12:40364400-40391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:40366400-40390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40380800-40384200	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:40380800-40393400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:40383200-40384400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:40383200-40384400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:40383200-40385800	Weak transcription	Fetal Brain Male	brain
8	chr12:40383400-40384400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:40383600-40384400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:40383600-40384400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:40383800-40384200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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