Variant report

Variant	rs973381
Chromosome Location	chr1:166121318-166121319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10800192	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10800195	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800196	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800212	1.00[TSI][hapmap]
rs10918380	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12401942	0.93[ASN][1000 genomes]
rs12404396	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12406386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12406413	1.00[ASN][1000 genomes]
rs12407378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12410486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12410779	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376660	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1451605	0.82[ASN][1000 genomes]
rs1551178	0.82[ASN][1000 genomes]
rs16856624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856659	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856712	0.84[ASN][1000 genomes]
rs1993106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116525	0.82[ASN][1000 genomes]
rs2163629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072243	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4657519	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657524	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6663116	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6663205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6672329	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676350	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73034629	1.00[ASN][1000 genomes]
rs73034634	1.00[ASN][1000 genomes]
rs73041277	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046941	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046946	1.00[ASN][1000 genomes]
rs73046949	0.96[ASN][1000 genomes]
rs73046954	1.00[ASN][1000 genomes]
rs74118982	1.00[ASN][1000 genomes]
rs74118983	1.00[ASN][1000 genomes]
rs74118984	1.00[ASN][1000 genomes]
rs7523055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7551664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970519	1.00[ASN][1000 genomes]
rs987131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs973381	CD247	trans	brain	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166106600-166123200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:166113400-166122600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:166115000-166122600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:166117400-166124400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:166119400-166128400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:166119600-166122600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:166120800-166121600	Enhancers	Psoas Muscle	Psoas

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