Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23030735..23032362-chr20:23272599..23275068,2	K562	blood:
2	chr20:23030735..23033607-chr20:23271363..23275068,3	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11905535	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11907155	1.00[ASN][1000 genomes]
rs56752409	1.00[ASN][1000 genomes]
rs56848262	1.00[ASN][1000 genomes]
rs57270728	1.00[ASN][1000 genomes]
rs57666968	1.00[ASN][1000 genomes]
rs58071233	1.00[ASN][1000 genomes]
rs58496407	1.00[ASN][1000 genomes]
rs58950746	1.00[ASN][1000 genomes]
rs59146474	1.00[ASN][1000 genomes]
rs59371748	1.00[ASN][1000 genomes]
rs59775607	1.00[ASN][1000 genomes]
rs6036373	1.00[ASN][1000 genomes]
rs6048686	0.98[ASN][1000 genomes]
rs6076051	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs60763856	1.00[ASN][1000 genomes]
rs61259462	1.00[ASN][1000 genomes]
rs61322006	1.00[ASN][1000 genomes]
rs61594626	1.00[ASN][1000 genomes]
rs7264784	1.00[ASN][1000 genomes]
rs7267816	1.00[ASN][1000 genomes]
rs7269309	1.00[ASN][1000 genomes]
rs7270669	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7270895	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7270957	1.00[ASN][1000 genomes]
rs73316999	1.00[ASN][1000 genomes]
rs73319039	1.00[ASN][1000 genomes]
rs73319041	1.00[ASN][1000 genomes]
rs73904242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv458948	chr20:23234699-23292849	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv585721	chr20:23234699-23292849	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23253200-23274400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23269200-23277200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:23271000-23274800	Weak transcription	Small Intestine	intestine
4	chr20:23271200-23277000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:23271800-23276800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr20:23272400-23277000	Weak transcription	NHDF-Ad	bronchial
7	chr20:23272800-23277400	Weak transcription	Fetal Muscle Leg	muscle
8	chr20:23273400-23274400	Enhancers	Stomach Smooth Muscle	stomach
9	chr20:23273400-23275600	Enhancers	Spleen	Spleen
10	chr20:23274000-23275400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr20:23274200-23274400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:23274200-23274600	Enhancers	Fetal Stomach	stomach
13	chr20:23274200-23274800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr20:23274200-23275000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr20:23274200-23275200	Enhancers	Psoas Muscle	Psoas
16	chr20:23274200-23275200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr20:23274200-23275400	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr20:23274200-23275600	Enhancers	Lung	lung
19	chr20:23274200-23275800	Enhancers	Left Ventricle	heart
20	chr20:23274200-23275800	Enhancers	Right Atrium	heart

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