Variant report

Variant	rs11683314
Chromosome Location	chr2:180453399-180453400
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	chr2:180448727..180451606-chr2:180451820..180453949,2	K562	blood:

Variant related genes	Relation type
ENSG00000144331	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10169561	0.81[CEU][hapmap]
rs11681178	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs11688721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689513	1.00[CHB][hapmap]
rs11692794	0.88[CEU][hapmap]
rs11901866	1.00[CHB][hapmap]
rs12693197	0.81[CEU][hapmap]
rs13000183	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012626	1.00[CHB][hapmap]
rs13012946	0.87[CEU][hapmap]
rs13014208	1.00[CHB][hapmap]
rs13018742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356062	1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766255	0.92[CHD][hapmap];0.89[ASN][1000 genomes]
rs17767480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767681	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17768733	1.00[CHB][hapmap]
rs17768920	1.00[CHB][hapmap]
rs17818499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819812	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs17820073	1.00[CHB][hapmap]
rs1877942	1.00[CHB][hapmap]
rs34105987	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35877676	1.00[ASN][1000 genomes]
rs4511690	0.81[CEU][hapmap]
rs4893876	0.89[ASN][1000 genomes]
rs4893877	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs4894110	0.83[CHD][hapmap]
rs4894111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894114	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs66812964	1.00[ASN][1000 genomes]
rs6743733	0.84[GIH][hapmap]
rs67636064	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958001	0.89[ASN][1000 genomes]
rs7608208	1.00[CHB][hapmap]
rs951424	1.00[CHB][hapmap]
rs954649	0.84[GIH][hapmap]
rs979901	0.81[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875471	chr2:180448523-180469778	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11683314	CCDC141	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180435200-180461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:180449800-180456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:180450000-180456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:180452400-180454600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:180453200-180453600	Enhancers	Psoas Muscle	Psoas
6	chr2:180453200-180454200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:180453200-180454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180453200-180454800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:180453200-180455000	Enhancers	Skeletal Muscle Male	skeletal muscle

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