Variant report

Variant	rs1996749
Chromosome Location	chr12:103721013-103721014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10778228	0.91[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs10778231	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778232	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs10778236	0.95[CEU][hapmap];0.80[CHB][hapmap];0.91[EUR][1000 genomes]
rs10778237	0.91[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs10778238	0.86[EUR][1000 genomes]
rs10860977	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10860989	0.82[CEU][hapmap]
rs10860990	0.86[CEU][hapmap];0.80[CHB][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs11111537	0.82[CEU][hapmap]
rs11111540	0.82[CEU][hapmap];0.80[CHB][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs12301542	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12305336	0.82[CEU][hapmap]
rs1343868	0.82[EUR][1000 genomes]
rs1879621	0.95[CEU][hapmap];0.80[CHB][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs2374052	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2374060	0.86[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs2374061	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs4764732	0.87[EUR][1000 genomes]
rs4764733	0.82[CEU][hapmap]
rs4764949	0.92[ASW][hapmap];0.82[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4764952	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4764955	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs6539066	0.95[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539069	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs6539070	0.85[CEU][hapmap];0.83[CHB][hapmap];0.86[EUR][1000 genomes]
rs6539071	0.80[CHB][hapmap]
rs7137989	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7969597	0.91[EUR][1000 genomes]
rs7970479	0.88[EUR][1000 genomes]
rs7970531	0.86[CEU][hapmap];0.80[CHB][hapmap];0.86[EUR][1000 genomes]
rs7971321	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181626	0.88[EUR][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	nsv455703	chr12:103692799-103818049	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv560037	chr12:103692799-103818049	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1996749	EID3	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103707200-103786400	Weak transcription	Primary B cells from cord blood	blood
2	chr12:103712600-103734800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:103716800-103722200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:103720600-103721800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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