Variant report

Variant	rs12474567
Chromosome Location	chr2:142536551-142536552
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	chr2:142536364..142538824-chr2:142574055..142576511,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1008830	0.85[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10165118	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10193397	1.00[CHB][hapmap]
rs10195141	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs10496897	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs10928123	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12474491	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs12612082	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs12612242	0.93[ASN][1000 genomes]
rs12616665	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs12616779	0.93[ASN][1000 genomes]
rs12990449	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs13034371	0.93[ASN][1000 genomes]
rs13412865	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs1567305	0.93[ASN][1000 genomes]
rs1567306	0.93[ASN][1000 genomes]
rs1567307	0.93[ASN][1000 genomes]
rs1567308	0.93[ASN][1000 genomes]
rs16847091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16847244	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs16847247	0.95[CHB][hapmap]
rs1866025	0.99[ASN][1000 genomes]
rs1866026	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs1866027	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2009269	0.99[ASN][1000 genomes]
rs2009270	0.99[ASN][1000 genomes]
rs2048206	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2118274	0.96[ASN][1000 genomes]
rs2164697	0.93[ASN][1000 genomes]
rs2164699	0.93[ASN][1000 genomes]
rs2217964	0.90[CHB][hapmap];0.91[CHD][hapmap];0.80[JPT][hapmap]
rs2217965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2890600	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs34474362	0.92[ASN][1000 genomes]
rs34527764	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs3856362	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4352182	0.93[ASN][1000 genomes]
rs4622655	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs4954923	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6759610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7425972	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs972485	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs974973	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834394	chr2:142430225-142593264	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv459663	chr2:142509570-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv583236	chr2:142509570-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1004379	chr2:142514657-142547597	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv875246	chr2:142527100-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv875247	chr2:142527100-142569099	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv875248	chr2:142527100-142572590	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv875249	chr2:142527100-142614345	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12474567	SPOPL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142536400-142537000	Enhancers	Dnd41	blood

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