Variant report

Variant	rs10463643
Chromosome Location	chr5:112032675-112032676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112030920..112033533-chr5:112072037..112074629,2	MCF-7	breast:
2	chr5:112032150..112034629-chr5:112042719..112045906,3	MCF-7	breast:
3	chr5:112030715..112032884-chr5:112068786..112071232,2	K562	blood:
4	chr5:112030435..112033305-chr5:112072369..112073887,2	K562	blood:
5	chr5:112032190..112036026-chr5:112043206..112045704,4	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10076641	0.89[ASN][1000 genomes]
rs10463642	0.83[EUR][1000 genomes]
rs1069061	0.84[GIH][hapmap]
rs1093677	0.84[GIH][hapmap];0.81[TSI][hapmap]
rs12513804	0.92[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs12719151	0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs1441375	0.88[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465910	0.85[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1661035	0.84[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1661036	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1966477	0.81[EUR][1000 genomes]
rs2020383	0.86[JPT][hapmap]
rs2431238	0.94[GIH][hapmap];0.82[TSI][hapmap]
rs2439591	0.84[CHD][hapmap];0.97[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs2464805	0.97[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2545162	0.84[CEU][hapmap];0.97[GIH][hapmap]
rs2545163	0.83[CEU][hapmap]
rs2545167	0.81[GIH][hapmap];0.84[TSI][hapmap]
rs2545169	0.84[CEU][hapmap];0.97[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2546111	0.81[EUR][1000 genomes]
rs2546116	0.81[EUR][1000 genomes]
rs2900066	0.99[ASN][1000 genomes]
rs351771	0.94[GIH][hapmap]
rs382260	0.81[GIH][hapmap]
rs3846716	0.85[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs392907	0.84[CEU][hapmap]
rs395266	0.81[EUR][1000 genomes]
rs401908	0.83[EUR][1000 genomes]
rs41115	0.97[GIH][hapmap]
rs411356	0.84[CEU][hapmap];0.97[GIH][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs42427	0.97[GIH][hapmap]
rs429427	0.81[GIH][hapmap]
rs430665	0.84[GIH][hapmap]
rs434157	0.84[GIH][hapmap]
rs458967	0.81[EUR][1000 genomes]
rs464002	0.83[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs464708	0.84[CEU][hapmap];0.97[GIH][hapmap];0.86[TSI][hapmap]
rs465899	0.97[GIH][hapmap]
rs468179	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4705609	0.82[ASN][1000 genomes]
rs4705815	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs4705816	0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[ASN][1000 genomes]
rs497844	0.91[GIH][hapmap]
rs501250	0.97[GIH][hapmap]
rs529076	0.81[EUR][1000 genomes]
rs56335290	1.00[ASN][1000 genomes]
rs563556	0.80[CEU][hapmap]
rs6594643	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6594644	0.92[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs6864688	0.86[JPT][hapmap]
rs6894351	0.85[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs6898133	0.85[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs712662	0.84[GIH][hapmap]
rs712665	0.84[GIH][hapmap]
rs861674	0.82[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs866006	0.94[GIH][hapmap]
rs9326862	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs971517	0.99[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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10463643	SRP19	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112031400-112032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:112031400-112033000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112031400-112033200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:112031400-112034000	Enhancers	K562	blood
5	chr5:112031600-112033600	Weak transcription	Aorta	Aorta
6	chr5:112032600-112032800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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