Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:64039181..64043797-chr2:64066250..64069522,4	MCF-7	breast:
2	chr2:64039751..64042617-chr2:64066730..64068946,3	MCF-7	breast:
3	chr2:64040046..64042869-chr2:64061752..64064399,2	K562	blood:
4	chr2:64040180..64042427-chr2:64066640..64069360,2	K562	blood:
5	chr2:64037713..64041546-chr2:64062899..64066389,4	K562	blood:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

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

rs_ID	r²[population]
rs11540495	0.93[EUR][1000 genomes]
rs11885702	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11893776	0.88[EUR][1000 genomes]
rs11894281	0.88[EUR][1000 genomes]
rs11904498	0.91[EUR][1000 genomes]
rs57135216	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59719539	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60414642	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6714745	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6740299	0.81[EUR][1000 genomes]
rs71393337	0.81[EUR][1000 genomes]
rs72889330	0.82[EUR][1000 genomes]
rs72889367	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72889380	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72889381	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72889398	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72889399	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891006	0.81[AFR][1000 genomes]
rs72891008	0.81[AFR][1000 genomes]
rs72891012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7557394	0.81[EUR][1000 genomes]
rs7559197	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64029200-64045200	Weak transcription	Adipose Nuclei	Adipose
2	chr2:64031400-64043600	Weak transcription	Psoas Muscle	Psoas
3	chr2:64034600-64046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:64037400-64041400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:64037600-64041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:64038600-64042200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:64041200-64041600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:64041200-64042000	Enhancers	NHDF-Ad	bronchial
9	chr2:64041200-64042000	Enhancers	NHEK	skin
10	chr2:64041200-64044400	Enhancers	Muscle Satellite Cultured Cells	--

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