Variant report

Variant	rs631375
Chromosome Location	chr11:85303304-85303305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1046216	0.96[YRI][hapmap]
rs11603256	0.83[ASW][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs1237203	0.94[ASW][hapmap];0.84[CEU][hapmap];0.82[MKK][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes]
rs1847433	0.82[AFR][1000 genomes]
rs2162055	0.82[AFR][1000 genomes]
rs2196168	0.83[ASW][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap]
rs2290823	0.89[ASW][hapmap];0.81[LWK][hapmap];0.93[YRI][hapmap]
rs290184	0.83[ASW][hapmap];0.90[LWK][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap]
rs290185	0.94[ASW][hapmap];0.84[CEU][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs370385	0.81[CEU][hapmap];0.89[YRI][hapmap]
rs3753050	0.83[ASW][hapmap];0.91[LWK][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap]
rs3781815	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs3817087	0.86[AFR][1000 genomes]
rs3824956	0.83[ASW][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap]
rs3862782	0.83[ASW][hapmap];0.88[LWK][hapmap];0.96[YRI][hapmap]
rs4015271	0.82[AFR][1000 genomes]
rs4944526	0.91[AFR][1000 genomes]
rs4944530	0.83[AFR][1000 genomes]
rs497698	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs552013	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57296431	0.93[AFR][1000 genomes]
rs592460	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs647912	0.83[MEX][hapmap]
rs7107788	0.83[ASW][hapmap];0.91[LWK][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap]
rs7113528	0.94[AFR][1000 genomes]
rs7115250	0.84[AFR][1000 genomes]
rs7116195	0.83[ASW][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap]
rs7119617	0.83[LWK][hapmap];0.93[YRI][hapmap]
rs7943586	0.88[ASW][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap]
rs7948778	0.90[YRI][hapmap]
rs881120	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs956202	0.90[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs631375	GRM5	cis	parietal	SCAN
rs631375	SYTL2	cis	Muscle Skeletal	GTEx
rs631375	SYTL2	cis	multi-tissue	Pritchard
rs631375	RHBG	trans	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85300400-85303800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:85300400-85310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:85300600-85304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:85300800-85304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:85301000-85304200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:85301400-85304200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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