Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:60164468..60167982-chr17:60172578..60174977,3	K562	blood:
2	chr17:60163163..60166092-chr17:60169784..60172522,2	MCF-7	breast:
3	chr17:60161258..60163648-chr17:60164199..60167078,2	MCF-7	breast:
4	chr17:60141696..60143568-chr17:60162916..60166435,4	MCF-7	breast:
5	chr17:60162660..60165107-chr17:60181643..60183994,2	K562	blood:
6	chr17:60140089..60144135-chr17:60163778..60167736,3	K562	blood:

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction

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

rs_ID	r²[population]
rs10512491	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes]
rs12937188	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs16945724	0.90[CHB][hapmap]
rs16945762	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs16945785	0.84[AMR][1000 genomes]
rs4280312	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66685667	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843775	0.84[AMR][1000 genomes]
rs72843785	0.84[AMR][1000 genomes]
rs72843791	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72843793	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72843797	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72843801	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72845403	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72845404	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72845405	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72845406	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72845408	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72845420	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72845434	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845437	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs753765	1.00[CEU][hapmap]
rs9910451	1.00[CEU][hapmap];0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60155800-60167600	Weak transcription	Pancreas	Pancrea
2	chr17:60162000-60167400	Enhancers	HepG2	liver
3	chr17:60163600-60166800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr17:60163600-60167000	Weak transcription	Fetal Intestine Small	intestine
5	chr17:60163600-60169200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:60163800-60166400	Weak transcription	Stomach Mucosa	stomach
7	chr17:60164200-60166400	Weak transcription	Fetal Brain Male	brain
8	chr17:60164400-60165400	Weak transcription	Liver	Liver
9	chr17:60165000-60165200	Enhancers	Lung	lung

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