Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59660635..59662949-chr8:59662976..59665704,2	K562	blood:
2	chr8:59651354..59652911-chr8:59663564..59666386,2	K562	blood:

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

rs_ID	r²[population]
rs16923682	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs16923727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16923729	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16923739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923959	0.89[AMR][1000 genomes]
rs2634514	0.94[AMR][1000 genomes]
rs2634516	0.94[AMR][1000 genomes]
rs2634518	0.94[AMR][1000 genomes]
rs2634528	0.89[AMR][1000 genomes]
rs2693434	0.94[AMR][1000 genomes]
rs2693438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693449	0.89[AMR][1000 genomes]
rs2693451	0.84[AMR][1000 genomes]
rs2726576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726587	0.89[AMR][1000 genomes]
rs2726602	0.94[AMR][1000 genomes]
rs3110617	0.89[AMR][1000 genomes]
rs4451296	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7840141	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv4839	chr8:59664366-59665474	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59657600-59666400	Weak transcription	Fetal Stomach	stomach
2	chr8:59661200-59669200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:59661400-59665000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:59661400-59674600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:59661600-59664800	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:59661600-59666800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:59661800-59664800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:59661800-59664800	Weak transcription	HSMM	muscle
9	chr8:59661800-59664800	Weak transcription	Osteobl	bone
10	chr8:59661800-59665000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:59661800-59666000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:59662000-59666400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:59662600-59665000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:59663800-59665400	Enhancers	Thymus	Thymus
15	chr8:59664000-59664800	Enhancers	A549	lung
16	chr8:59664000-59665400	Enhancers	NHEK	skin
17	chr8:59664000-59666800	Enhancers	NHDF-Ad	bronchial
18	chr8:59664200-59666800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:59664200-59667600	Enhancers	Hela-S3	cervix
20	chr8:59664400-59665400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:59664400-59665400	Enhancers	NH-A	brain

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