Variant report

Variant	rs6692914
Chromosome Location	chr1:103612069-103612070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10874680	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11164669	1.00[YRI][hapmap]
rs11164672	0.82[YRI][hapmap]
rs11164673	0.88[CEU][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11164719	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11586799	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12026245	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12032097	0.92[AMR][1000 genomes]
rs12407864	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12410662	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12568878	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12569258	0.89[AMR][1000 genomes]
rs12726315	0.88[AMR][1000 genomes]
rs12734684	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12739207	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1415364	0.85[YRI][hapmap]
rs1415365	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528206	0.87[AMR][1000 genomes]
rs1591635	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1881271	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1881272	0.92[AMR][1000 genomes]
rs2178161	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2376281	1.00[YRI][hapmap]
rs35286522	0.92[AMR][1000 genomes]
rs35408333	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs3850460	0.81[AMR][1000 genomes]
rs4908291	1.00[YRI][hapmap]
rs6577356	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6657513	0.92[AMR][1000 genomes]
rs7526357	0.88[AMR][1000 genomes]
rs7530263	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs954564	0.92[AMR][1000 genomes]
rs9970114	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv947301	chr1:103609727-103612757	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6692914	DBT	cis	cerebellum	SCAN
rs6692914	AGL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103610200-103612600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:103610600-103612400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:103611000-103613200	Enhancers	HSMM	muscle
4	chr1:103611200-103612400	Enhancers	Dnd41	blood

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