Variant report

Variant	rs1866245
Chromosome Location	chr2:86214360-86214361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86208939..86211667-chr2:86213596..86215398,2	K562	blood:
2	chr2:86213970..86216598-chr2:86224690..86226191,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10173155	0.96[CEU][hapmap];0.84[MEX][hapmap]
rs10181916	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186005	0.80[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10189191	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198260	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1020095	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890514	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11891625	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12470643	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12472588	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12476390	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714162	0.86[ASN][1000 genomes]
rs12714163	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714164	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12714165	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000793	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13024123	0.84[JPT][hapmap]
rs1438153	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1438155	1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1561330	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1866242	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2083168	0.81[AMR][1000 genomes]
rs2099616	0.81[AMR][1000 genomes]
rs2099617	0.83[AMR][1000 genomes]
rs2278536	0.85[JPT][hapmap]
rs3937593	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4346389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480982	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4514874	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832018	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4832019	0.82[ASN][1000 genomes]
rs4832020	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4832232	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4832233	0.96[CEU][hapmap];0.84[MEX][hapmap]
rs6547651	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547653	0.81[AMR][1000 genomes]
rs6547654	0.81[AMR][1000 genomes]
rs6706720	0.93[ASN][1000 genomes]
rs6708525	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735014	0.85[JPT][hapmap]
rs6737454	0.81[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740044	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs7572386	0.85[JPT][hapmap]
rs7586985	0.81[AMR][1000 genomes]
rs7595420	0.81[AMR][1000 genomes]
rs7597264	0.91[ASN][1000 genomes]
rs7599326	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7606897	0.83[AMR][1000 genomes]
rs7607138	0.81[AMR][1000 genomes]
rs893442	0.81[AMR][1000 genomes]
rs934829	0.81[AMR][1000 genomes]
rs934830	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934831	0.81[AMR][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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1866245	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs1866245	IMMT	cis	uninvolved skin	skin_eQTL
rs1866245	MRPL35	cis	normal skin	skin_eQTL
rs1866245	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86204000-86221000	Weak transcription	Right Atrium	heart
2	chr2:86207000-86214400	Weak transcription	Adipose Nuclei	Adipose
3	chr2:86207000-86223400	Weak transcription	Liver	Liver
4	chr2:86207600-86219800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:86209000-86215600	Weak transcription	Spleen	Spleen
6	chr2:86211600-86214400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:86211800-86215800	Weak transcription	Thymus	Thymus
8	chr2:86212000-86214400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:86212200-86214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:86213400-86214600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:86213400-86215000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:86213800-86217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:86214200-86216800	Enhancers	Fetal Muscle Trunk	muscle

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