Variant report

Variant	rs2941044
Chromosome Location	chr11:34867444-34867445
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34865938..34868708-chr11:34870452..34873276,2	K562	blood:
2	chr11:34861723..34863511-chr11:34864599..34867573,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1036070	0.81[ASN][1000 genomes]
rs1117051	0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1117445	0.81[ASN][1000 genomes]
rs1396880	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396881	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549789	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549791	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1553757	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1553758	0.84[ASN][1000 genomes]
rs1553759	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1553760	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1553761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1553762	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1828298	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1858166	0.84[ASN][1000 genomes]
rs1960524	0.93[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1991648	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2031686	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2033355	0.87[ASN][1000 genomes]
rs2033357	0.81[ASN][1000 genomes]
rs2033358	0.81[ASN][1000 genomes]
rs2033360	0.81[ASN][1000 genomes]
rs2116085	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2116090	0.81[ASN][1000 genomes]
rs2163374	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2163375	0.86[ASN][1000 genomes]
rs2421743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915177	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915178	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915179	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915180	0.84[ASN][1000 genomes]
rs2915198	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2915208	0.81[ASN][1000 genomes]
rs2915214	0.86[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2915217	0.93[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2915218	0.81[ASN][1000 genomes]
rs2915225	0.93[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2915226	0.81[ASN][1000 genomes]
rs2915228	0.81[ASN][1000 genomes]
rs2915230	0.81[ASN][1000 genomes]
rs2915231	0.81[ASN][1000 genomes]
rs2915232	0.81[ASN][1000 genomes]
rs2915233	0.81[ASN][1000 genomes]
rs2915235	0.81[ASN][1000 genomes]
rs2915237	0.86[ASN][1000 genomes]
rs2915238	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2941040	0.97[ASN][1000 genomes]
rs2941041	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941042	0.84[ASN][1000 genomes]
rs2941043	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2941045	0.80[ASN][1000 genomes]
rs2941050	0.81[ASN][1000 genomes]
rs2941052	0.81[ASN][1000 genomes]
rs2941054	0.92[ASN][1000 genomes]
rs2941055	0.80[ASN][1000 genomes]
rs2941056	0.95[ASN][1000 genomes]
rs2941057	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2941058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2941059	0.87[ASN][1000 genomes]
rs2941060	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2941061	0.81[ASN][1000 genomes]
rs2956074	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2956076	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956077	0.83[JPT][hapmap]
rs2956078	0.96[ASN][1000 genomes]
rs2956079	0.86[ASN][1000 genomes]
rs2956080	0.81[ASN][1000 genomes]
rs2956084	0.81[ASN][1000 genomes]
rs2956086	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs2956095	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2956097	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs2956112	0.92[CHB][hapmap]
rs2956116	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs2956120	0.81[ASN][1000 genomes]
rs2956125	0.93[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2985150	0.83[JPT][hapmap]
rs2985382	0.93[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2986403	0.83[JPT][hapmap]
rs2986406	0.83[JPT][hapmap]
rs2986408	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2986413	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2986421	0.93[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs520658	0.83[JPT][hapmap]
rs724714	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7932442	0.84[EUR][1000 genomes]
rs891550	0.81[ASN][1000 genomes]
rs919554	0.81[ASN][1000 genomes]
rs925289	0.81[ASN][1000 genomes]
rs984690	0.93[CHB][hapmap];0.82[JPT][hapmap]

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	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2941044	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs2941044	APIP	cis	Esophagus Muscularis	GTEx
rs2941044	APIP	cis	Thyroid	GTEx
rs2941044	LOC728766///PRDM15	trans	lymphoblastoid	RTeQTL
rs2941044	APIP	cis	Nerve Tibial	GTEx
rs2941044	APIP	cis	multi-tissue	Pritchard
rs2941044	APIP	cis	Artery Aorta	GTEx
rs2941044	APIP	cis	Heart Left Ventricle	GTEx
rs2941044	PDHX	Cis_1M	lymphoblastoid	RTeQTL
rs2941044	APIP	cis	Lymphoblastoid	GTEx
rs2941044	APIP	cis	Artery Tibial	GTEx
rs2941044	APIP	cis	lung	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34859000-34909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34859400-34871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:34866400-34867800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:34867200-34868200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links