Variant report

Variant	rs1203569
Chromosome Location	chr7:40836291-40836292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1006376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10233069	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10235458	0.83[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10268219	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs10272516	0.90[EUR][1000 genomes]
rs10276629	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10279715	0.86[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs1029620	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1029621	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10951639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203570	0.81[CHD][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs1203573	0.92[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1203575	0.81[EUR][1000 genomes]
rs12701836	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs12701837	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs13243593	0.90[ASN][1000 genomes]
rs13246232	0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1733483	0.85[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs17770991	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs1974547	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2108375	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2108376	0.91[ASN][1000 genomes]
rs2302025	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs2329877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34689844	0.91[ASN][1000 genomes]
rs35628600	0.99[EUR][1000 genomes]
rs35995194	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36200804	0.96[EUR][1000 genomes]
rs6462989	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs723838	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763714	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830973	chr7:40816419-40851594	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1203569	POLM	cis	parietal	SCAN
rs1203569	INHBA	cis	Nerve Tibial	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40832400-40836400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:40832800-40841800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:40833600-40839400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:40833600-40840400	Weak transcription	NHDF-Ad	bronchial
5	chr7:40834000-40844200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:40835400-40847800	Weak transcription	Aorta	Aorta
7	chr7:40835800-40839000	Weak transcription	Fetal Stomach	stomach
8	chr7:40835800-40844400	Weak transcription	HSMM	muscle
9	chr7:40836000-40836600	Enhancers	Ovary	ovary
10	chr7:40836200-40840600	Weak transcription	Osteobl	bone

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