Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168350817..168353056-chr2:168354971..168356552,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1159502	1.00[AFR][1000 genomes]
rs11892420	0.81[ASN][1000 genomes]
rs11897803	0.84[ASN][1000 genomes]
rs11899757	0.91[ASN][1000 genomes]
rs12105560	0.91[ASN][1000 genomes]
rs1227120	0.87[ASN][1000 genomes]
rs12996381	0.91[ASN][1000 genomes]
rs13383575	0.84[ASN][1000 genomes]
rs13406065	0.84[ASN][1000 genomes]
rs1653425	0.87[ASN][1000 genomes]
rs16853634	1.00[ASN][1000 genomes]
rs16853653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1730725	0.86[ASN][1000 genomes]
rs1813255	0.87[ASN][1000 genomes]
rs35580310	0.91[ASN][1000 genomes]
rs61416591	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710395	0.84[ASN][1000 genomes]
rs6725601	0.82[ASN][1000 genomes]
rs6753105	0.84[ASN][1000 genomes]
rs67697939	0.81[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	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168337000-168355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:168338200-168366000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:168341600-168365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:168346200-168358800	Weak transcription	Fetal Lung	lung
5	chr2:168347400-168354000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:168352400-168353200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:168352400-168353400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:168352400-168353400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:168352600-168353000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:168352600-168353200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:168352800-168353200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:168352800-168353400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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