Variant report

Variant	rs214047
Chromosome Location	chr2:56490680-56490681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10210479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1160647	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs13026932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1990757	1.00[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2193473	1.00[CEU][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2193474	0.85[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2193476	0.93[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2216323	1.00[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2869527	0.91[CEU][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2869528	1.00[CEU][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4672100	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6545558	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6545559	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs6719608	0.91[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs979504	1.00[CEU][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs994297	0.91[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs214047	TSPYL6	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56486600-56505000	Weak transcription	Left Ventricle	heart
2	chr2:56487600-56492200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56487800-56506000	Weak transcription	Psoas Muscle	Psoas
4	chr2:56488000-56493800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:56488000-56514000	Weak transcription	HSMM	muscle
6	chr2:56490600-56492000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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