Variant report

Variant	rs7321872
Chromosome Location	chr13:38246607-38246608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11147662	0.81[CEU][hapmap]
rs11843893	0.81[CEU][hapmap]
rs28373781	0.80[EUR][1000 genomes]
rs28646275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56312513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59082193	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7321585	0.95[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7322054	0.81[CHB][hapmap]
rs7330679	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9532093	0.95[CEU][hapmap];0.90[YRI][hapmap]
rs9532095	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9532101	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9532105	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9547965	0.88[CEU][hapmap]
rs9547991	0.81[CEU][hapmap]
rs9547992	0.82[EUR][1000 genomes]
rs9547994	0.95[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs9547996	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs9547997	0.95[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs9547998	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs9547999	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs9548000	0.95[CEU][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs9548003	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9548008	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9548026	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9548032	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7321872	POSTN	cis	cerebellum	SCAN
rs7321872	LOC646982	cis	parietal	SCAN
rs7321872	SOHLH2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38211400-38275600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr13:38231800-38255000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:38234000-38256000	Weak transcription	Ovary	ovary
4	chr13:38240200-38250000	Weak transcription	NH-A	brain
5	chr13:38240600-38254600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:38240600-38255400	Weak transcription	NHLF	lung
7	chr13:38240600-38256600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:38241000-38255400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:38244400-38249800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:38244800-38255400	Weak transcription	NHDF-Ad	bronchial
11	chr13:38245800-38246800	Strong transcription	Osteobl	bone
12	chr13:38246400-38248600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:38246600-38247000	Strong transcription	H1 Cell Line	embryonic stem cell

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