Variant report

Variant	rs12057382
Chromosome Location	chr1:75983995-75983996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10157357	0.85[CEU][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10465736	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10465738	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465739	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518500	1.00[JPT][hapmap]
rs106252	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163494	0.82[CEU][hapmap]
rs11163500	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs11806459	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12057688	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12088462	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13373792	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13373826	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1412715	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778451	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190026	1.00[CHB][hapmap]
rs1999493	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2024773	1.00[CHB][hapmap]
rs211686	1.00[CHB][hapmap]
rs211698	1.00[CHB][hapmap]
rs211701	1.00[CHB][hapmap]
rs211706	1.00[CHB][hapmap]
rs211707	1.00[CHB][hapmap]
rs211741	1.00[CHB][hapmap]
rs211760	1.00[CHB][hapmap]
rs211761	1.00[CHB][hapmap]
rs211768	1.00[CHB][hapmap]
rs211783	1.00[CHB][hapmap]
rs211784	1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211785	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211787	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141468	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4598448	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs58831329	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593578	1.00[CHB][hapmap]

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75982800-75984600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:75982800-75984600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:75982800-75985400	Weak transcription	K562	blood
4	chr1:75983000-75984400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:75983000-75985800	Weak transcription	Fetal Brain Female	brain
6	chr1:75983200-75985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:75983400-75987600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:75983600-75984600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:75983600-75990200	Enhancers	Fetal Brain Male	brain

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