Variant report

Variant	rs1918949
Chromosome Location	chr12:40979918-40979919
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	chr12:40974030..40975876-chr12:40978694..40980782,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10431578	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs10506171	0.88[ASN][1000 genomes]
rs11177109	0.84[JPT][hapmap]
rs11177179	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11177260	0.82[ASN][1000 genomes]
rs11177334	0.88[ASN][1000 genomes]
rs11177345	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11177347	0.85[ASN][1000 genomes]
rs11177352	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11177354	0.87[ASN][1000 genomes]
rs11832449	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11838212	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs12227829	0.83[AFR][1000 genomes]
rs12230855	0.83[ASN][1000 genomes]
rs12230872	0.88[ASN][1000 genomes]
rs1463738	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs1492315	0.83[AFR][1000 genomes]
rs1918946	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918947	0.88[ASN][1000 genomes]
rs1965309	0.82[AFR][1000 genomes]
rs2201174	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2204681	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3751169	0.83[AFR][1000 genomes]
rs3829294	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs3920440	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768294	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5002282	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs58355196	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7133098	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7134929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7299467	0.88[ASN][1000 genomes]
rs7304329	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs7308403	0.83[AFR][1000 genomes]
rs7308996	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7310318	0.88[ASN][1000 genomes]
rs7979493	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8181694	0.81[ASN][1000 genomes]

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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv683	chr12:40951473-40996258	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv519683	chr12:40967369-40987568	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40979600-40981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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