Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221399183..221401603-chr1:221404530..221406087,2	K562	blood:

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1442462	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4846690	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4846692	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4846694	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4846698	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6686637	0.88[EUR][1000 genomes]
rs6687985	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522767	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7549116	0.87[EUR][1000 genomes]
rs874287	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431445	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9431454	0.81[AMR][1000 genomes];0.96[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:221400800-221401400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr1:221400800-221401400	Enhancers	Right Atrium	heart
3	chr1:221400800-221402600	Enhancers	Left Ventricle	heart
4	chr1:221400800-221402800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:221401000-221401400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:221401000-221401400	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:221401000-221401800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr1:221401000-221402000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr1:221401000-221402200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr1:221401000-221402400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:221401000-221402600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:221401000-221402600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:221401000-221402600	Enhancers	Adipose Nuclei	Adipose
14	chr1:221401000-221402600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:221401000-221402600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:221401200-221401400	Weak transcription	Pancreas	Pancrea
17	chr1:221401200-221401800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:221401200-221402200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr1:221401200-221402600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:221401200-221402600	Enhancers	Colon Smooth Muscle	Colon

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