Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136690250..136691872-chr7:136692985..136695263,2	K562	blood:

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

rs_ID	r²[population]
rs1035609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447880	1.00[CHB][hapmap]
rs10954567	1.00[CHB][hapmap]
rs12537962	1.00[CHB][hapmap]
rs12540313	1.00[CHB][hapmap]
rs13244595	1.00[CHB][hapmap]
rs1364406	1.00[CHB][hapmap]
rs1424543	1.00[CHB][hapmap]
rs1424574	1.00[CHB][hapmap]
rs17414604	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17494846	1.00[CHB][hapmap]
rs17495182	1.00[CHB][hapmap]
rs17498745	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17499892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324637	1.00[JPT][hapmap]
rs324640	1.00[JPT][hapmap]
rs324644	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs420817	1.00[JPT][hapmap]
rs4341110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62487063	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62487065	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6963577	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7458912	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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136674800-136694200	Weak transcription	Left Ventricle	heart
2	chr7:136686200-136692200	Weak transcription	Ovary	ovary
3	chr7:136686400-136692000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:136687600-136694400	Enhancers	Fetal Heart	heart
5	chr7:136689200-136692200	Enhancers	Colon Smooth Muscle	Colon
6	chr7:136689800-136691600	Enhancers	Stomach Mucosa	stomach
7	chr7:136689800-136692000	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:136690000-136692200	Enhancers	Stomach Smooth Muscle	stomach
9	chr7:136690400-136691800	Enhancers	Fetal Stomach	stomach
10	chr7:136690600-136691600	Enhancers	Fetal Lung	lung
11	chr7:136690600-136691600	Enhancers	Right Ventricle	heart
12	chr7:136690600-136692600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:136690600-136692600	Enhancers	NHLF	lung
14	chr7:136690800-136692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:136691000-136692600	Enhancers	Osteobl	bone
16	chr7:136691000-136692800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:136691000-136692800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:136691400-136692600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:136691400-136692800	Enhancers	Pancreatic Islets	Pancreatic Islet

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