Variant report

Variant	rs2414047
Chromosome Location	chr15:50682969-50682970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:50681045..50683024-chr15:50688227..50690082,2	MCF-7	breast:
2	chr15:50646317..50649319-chr15:50681822..50686701,6	MCF-7	breast:
3	chr15:50646276..50650534-chr15:50680183..50686065,7	MCF-7	breast:
4	chr15:50643783..50647096-chr15:50681349..50683673,3	K562	blood:
5	chr15:50653724..50655315-chr15:50681569..50683481,2	K562	blood:
6	chr15:50677655..50679701-chr15:50681289..50683239,2	MCF-7	breast:
7	chr15:50647718..50649902-chr15:50680619..50683517,3	K562	blood:
8	chr15:50652761..50655517-chr15:50682002..50683698,2	MCF-7	breast:
9	chr15:50655847..50659285-chr15:50680641..50684000,3	MCF-7	breast:
10	chr15:50480644..50482512-chr15:50681372..50682992,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1134906	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11631966	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637276	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11639115	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595107	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12902376	0.85[AMR][1000 genomes]
rs12910141	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12916674	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1985625	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2078139	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34943451	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774560	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775878	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493438	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7163201	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7496811	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8027243	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8035590	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8036041	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs934638	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9673053	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
5	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50677000-50690400	Weak transcription	Right Atrium	heart
2	chr15:50681400-50685600	Enhancers	Placenta	Placenta
3	chr15:50681800-50684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:50682000-50683000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr15:50682200-50684400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:50682600-50683000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:50682600-50683400	Enhancers	Primary hematopoietic stem cells	blood
8	chr15:50682600-50683800	Enhancers	K562	blood
9	chr15:50682800-50683000	Enhancers	GM12878-XiMat	blood
10	chr15:50682800-50683200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:50682800-50683400	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:50682800-50683400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:50682800-50683400	Enhancers	A549	lung
14	chr15:50682800-50683600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:50682800-50683600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:50682800-50685400	Enhancers	Hela-S3	cervix
17	chr15:50682800-50685600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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