Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:38661517..38663514-chr17:38666033..38667787,2	MCF-7	breast:
2	chr17:38661625..38664406-chr17:38665546..38668023,2	MCF-7	breast:
3	chr17:38661296..38663245-chr17:38668253..38670398,2	MCF-7	breast:
4	chr17:38656765..38658696-chr17:38662629..38664768,2	MCF-7	breast:
5	chr17:38661260..38663588-chr17:38671546..38673354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction
ENSG00000266088	Chromatin interaction

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs475298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890086	1.00[CHB][hapmap]
rs4890087	0.94[EUR][1000 genomes]
rs499490	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[ASN][1000 genomes]
rs594783	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs596960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503543	0.88[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7217539	0.82[CEU][hapmap]
rs7219622	0.90[JPT][hapmap];1.00[MEX][hapmap]
rs7221799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8066508	1.00[JPT][hapmap]
rs8069091	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8077724	1.00[MEX][hapmap]
rs896135	0.82[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs896136	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs921394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9901908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr17:38656600-38666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr17:38656600-38668000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:38656800-38666000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:38656800-38668400	Weak transcription	Gastric	stomach
5	chr17:38657000-38666000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:38657000-38666000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:38658400-38665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:38659000-38665000	Weak transcription	Hela-S3	cervix
9	chr17:38662200-38663200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:38662200-38663400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:38662400-38663400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:38662400-38663400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr17:38662600-38662800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:38662600-38663000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:38662600-38663000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr17:38662600-38663000	Enhancers	NHEK	skin
17	chr17:38662600-38663200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr17:38662600-38663400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr17:38662600-38663400	Enhancers	A549	lung
20	chr17:38662600-38663600	Enhancers	Fetal Stomach	stomach

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