Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:220448590..220453578-chr1:220456317..220461314,5	K562	blood:
2	chr1:220438275..220439851-chr1:220451270..220453670,2	K562	blood:
3	chr1:220446026..220449283-chr1:220451004..220455196,4	K562	blood:
4	chr1:220445957..220448646-chr1:220450817..220453082,3	K562	blood:
5	chr1:220448675..220450303-chr1:220450612..220453414,2	K562	blood:
6	chr1:220449502..220452235-chr1:220455854..220457396,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10863537	0.89[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10863538	0.94[ASN][1000 genomes]
rs11118507	0.94[ASN][1000 genomes]
rs12026681	0.83[JPT][hapmap]
rs1397958	0.94[ASN][1000 genomes]
rs1511695	0.83[CEU][hapmap]
rs1588578	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2221833	0.94[ASN][1000 genomes]
rs2667968	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2667969	0.94[ASN][1000 genomes]
rs2667970	0.94[ASN][1000 genomes]
rs2808008	0.92[ASN][1000 genomes]
rs2808009	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[ASN][1000 genomes]
rs2808011	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2808012	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2808013	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2808016	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2808018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2808019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2814492	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4142940	0.89[ASN][1000 genomes]
rs4511114	0.89[ASN][1000 genomes]
rs6541127	0.94[ASN][1000 genomes]
rs6696985	0.88[ASN][1000 genomes]
rs7535619	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[ASN][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220447400-220452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:220448200-220454200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220448200-220455000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:220449600-220452400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:220449800-220455800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:220451800-220452600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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