Variant report

Variant	rs2286175
Chromosome Location	chr7:124431032-124431033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124429585..124431112-chr7:124569915..124572046,2	K562	blood:
2	chr7:124430897..124433270-chr7:124438341..124440409,2	K562	blood:

Variant related genes	Relation type
ENSG00000128513	Chromatin interaction
ENSG00000224897	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1009450	0.86[CEU][hapmap];0.81[CHD][hapmap];0.93[MEX][hapmap]
rs10224463	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10225552	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10226033	0.94[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228201	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10230610	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10233385	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10233596	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10240673	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10241173	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10244817	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10246424	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10249722	0.90[ASN][1000 genomes]
rs10253613	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264060	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10265763	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10271646	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.91[ASN][1000 genomes]
rs10281582	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10464529	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12111865	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1541416	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1541418	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17246404	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2107939	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2170352	0.86[CEU][hapmap]
rs2239532	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2402751	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402752	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523990	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28622327	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28638102	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28728448	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28844358	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34986416	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36045816	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3925331	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4473974	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4532534	0.90[ASN][1000 genomes]
rs55964341	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56313563	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56321835	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56356267	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56387611	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59294613	0.91[ASN][1000 genomes]
rs59670428	0.91[ASN][1000 genomes]
rs66492217	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66513837	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66526112	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66665074	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66922607	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67084428	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67146030	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67552763	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67585224	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67939974	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68007199	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68091803	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6943653	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952721	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6971909	0.91[ASN][1000 genomes]
rs720613	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs720614	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs722560	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs727505	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7777947	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790856	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791430	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795943	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7801661	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7806680	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655845	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs988699	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs989177	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2286175	WASL	cis	cerebellum	SCAN
rs2286175	ASB15	cis	cerebellum	SCAN
rs2286175	IMPDH1	cis	parietal	SCAN
rs2286175	GPR37	cis	lung	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124428400-124431800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:124430600-124431200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:124430600-124431200	Active TSS	Aorta	Aorta
4	chr7:124430600-124431200	Active TSS	NHDF-Ad	bronchial
5	chr7:124430600-124431400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:124430600-124432400	Enhancers	Placenta	Placenta
7	chr7:124430800-124431200	Active TSS	Adipose Nuclei	Adipose
8	chr7:124430800-124431200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:124430800-124431800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:124431000-124431200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:124431000-124431200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:124431000-124431600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:124431000-124433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links