Variant report

Variant	rs11946084
Chromosome Location	chr4:175250827-175250828
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	chr4:175248916..175250858-chr4:175257293..175259616,2	K562	blood:
2	chr4:175248169..175251761-chr4:175254871..175257215,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10034021	0.89[CEU][hapmap]
rs10520275	0.89[CEU][hapmap]
rs10565	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11934405	0.86[ASN][1000 genomes]
rs11939414	0.85[ASN][1000 genomes]
rs11944262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111067	0.93[ASN][1000 genomes]
rs13112711	0.93[ASN][1000 genomes]
rs13128257	0.89[CEU][hapmap]
rs13130276	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17291087	0.89[CEU][hapmap]
rs17291128	0.89[CEU][hapmap]
rs17291408	0.89[CEU][hapmap]
rs17294597	1.00[CHB][hapmap]
rs34066344	0.85[ASN][1000 genomes]
rs34274380	0.85[ASN][1000 genomes]
rs34369193	0.85[ASN][1000 genomes]
rs34698083	0.85[ASN][1000 genomes]
rs34765808	0.85[ASN][1000 genomes]
rs34988464	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35377027	0.85[ASN][1000 genomes]
rs35918158	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4280712	0.85[ASN][1000 genomes]
rs4287982	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs4293767	0.85[ASN][1000 genomes]
rs4408938	0.85[ASN][1000 genomes]
rs4408939	0.85[ASN][1000 genomes]
rs4695915	0.88[CEU][hapmap]
rs4695922	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4695923	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695926	0.85[ASN][1000 genomes]
rs4695927	0.85[ASN][1000 genomes]
rs4695928	0.85[ASN][1000 genomes]
rs6553777	0.89[CEU][hapmap]
rs67509565	0.85[ASN][1000 genomes]
rs6812756	0.85[ASN][1000 genomes]
rs6812772	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6817902	0.85[ASN][1000 genomes]
rs6824643	0.88[CEU][hapmap]
rs6851312	0.88[CEU][hapmap]
rs7661236	0.92[CEU][hapmap]
rs7669484	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11946084	KIAA1712	cis	multi-tissue	Pritchard
rs11946084	CEP44	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175214600-175254800	Weak transcription	Esophagus	oesophagus
2	chr4:175233800-175252600	Weak transcription	Left Ventricle	heart
3	chr4:175233800-175255800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:175236200-175258400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:175238000-175254800	Weak transcription	Adipose Nuclei	Adipose
6	chr4:175238000-175255400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:175239200-175253600	Weak transcription	NHEK	skin
8	chr4:175241400-175257400	Weak transcription	Fetal Thymus	thymus
9	chr4:175242200-175252400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:175242400-175253000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:175246400-175253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:175246400-175261800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:175249000-175257000	Weak transcription	Aorta	Aorta

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