Variant report

Variant	rs10519257
Chromosome Location	chr15:50388921-50388922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50372189..50373837-chr15:50387101..50389661,2	K562	blood:
2	chr15:50387437..50389948-chr15:52496988..52498573,2	K562	blood:
3	chr15:50387663..50389890-chr15:50394989..50396741,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11070747	0.86[JPT][hapmap]
rs11857230	0.86[JPT][hapmap]
rs12050709	0.90[CEU][hapmap]
rs12148444	0.81[JPT][hapmap];1.00[YRI][hapmap]
rs12902530	0.81[EUR][1000 genomes]
rs12903325	0.85[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap]
rs12904370	1.00[ASW][hapmap];0.84[JPT][hapmap]
rs12905011	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909131	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369108	0.81[EUR][1000 genomes]
rs34970637	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41362650	0.95[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4775851	0.86[JPT][hapmap]
rs6493402	0.81[GIH][hapmap];0.86[JPT][hapmap]
rs68191015	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170947	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7172615	0.84[CEU][hapmap]
rs7176805	0.84[JPT][hapmap]
rs7177318	0.81[GIH][hapmap];0.81[JPT][hapmap]
rs8040030	0.86[JPT][hapmap]

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	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10519257	ATP8B4	cis	multi-tissue	Pritchard
rs10519257	ATP8B4	cis	cerebellum	SCAN
rs10519257	ATP8B4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50387200-50391200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:50387400-50390200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:50388000-50389200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:50388000-50389200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr15:50388200-50389000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:50388200-50389200	Enhancers	Primary hematopoietic stem cells	blood
7	chr15:50388200-50393600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:50388400-50389000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:50388600-50391200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:50388800-50389800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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