Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:57922201..57924049-chr20:52696967..52699778,2	MCF-7	breast:
2	chr17:56734545..56738013-chr20:52696672..52702961,12	MCF-7	breast:
3	chr17:56708934..56709459-chr20:52697566..52698168,2	MCF-7	breast:
4	chr20:52697485..52699948-chr20:52774377..52776351,2	K562	blood:
5	chr17:56707745..56710309-chr20:52697502..52703858,9	MCF-7	breast:
6	chr17:56703018..56712407-chr20:52697460..52725685,93	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000212195	Chromatin interaction

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

rs_ID	r²[population]
rs11699339	0.90[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13037207	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13041834	0.82[JPT][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs1531485	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs1531486	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs1537439	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs1543703	0.86[AMR][1000 genomes]
rs2870307	0.90[CEU][hapmap]
rs290440	0.82[ASN][1000 genomes]
rs290447	0.90[CHB][hapmap];0.80[CHD][hapmap];0.87[ASN][1000 genomes]
rs3787547	0.90[CHB][hapmap];0.80[CHD][hapmap];0.87[ASN][1000 genomes]
rs3787550	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs462041	0.85[CHB][hapmap]
rs462703	0.85[CHB][hapmap]
rs465096	0.85[CHB][hapmap]
rs6064043	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6064045	0.82[JPT][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes]
rs6068765	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs6068772	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6068773	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068776	0.82[JPT][hapmap];0.86[AMR][1000 genomes]
rs6512935	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.84[AMR][1000 genomes];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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6068774	BCAS1	cis	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52693000-52701200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr20:52693400-52698600	Weak transcription	Stomach Mucosa	stomach
3	chr20:52693800-52699200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:52695600-52700200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:52695800-52698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:52696000-52698600	Weak transcription	A549	lung
7	chr20:52696600-52698600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr20:52697200-52697800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:52697200-52700600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr20:52697400-52698600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr20:52697600-52697800	Enhancers	GM12878-XiMat	blood

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