Variant report

Variant	rs9691411
Chromosome Location	chr7:47920901-47920902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10951932	0.81[GIH][hapmap]
rs10951935	0.81[GIH][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs11520726	0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs12534916	0.81[AMR][1000 genomes]
rs12536468	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131893	0.83[AMR][1000 genomes]
rs17131896	0.84[CHB][hapmap];0.83[AMR][1000 genomes]
rs17131899	0.83[AMR][1000 genomes]
rs17710983	0.92[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs2004959	0.83[CHB][hapmap];0.81[AMR][1000 genomes]
rs2017282	0.81[AMR][1000 genomes]
rs2167877	0.95[YRI][hapmap];0.81[AMR][1000 genomes]
rs2348656	0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs2348657	0.84[CHB][hapmap];0.81[AMR][1000 genomes]
rs2348658	0.81[AMR][1000 genomes]
rs2348659	0.81[AMR][1000 genomes]
rs2348660	0.81[GIH][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs2348661	0.81[GIH][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs2348662	0.81[AMR][1000 genomes]
rs2881990	0.81[AMR][1000 genomes]
rs35717990	0.83[AMR][1000 genomes]
rs3736548	0.81[AMR][1000 genomes]
rs3736549	0.81[AMR][1000 genomes]
rs4720619	0.81[AMR][1000 genomes]
rs4720620	0.81[AMR][1000 genomes]
rs4720621	0.81[GIH][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs4720622	0.81[AMR][1000 genomes]
rs4724653	0.81[AMR][1000 genomes]
rs4724654	0.81[GIH][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs4724655	0.81[AMR][1000 genomes]
rs4724656	0.81[AMR][1000 genomes]
rs4724657	0.81[GIH][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs4724658	0.81[AMR][1000 genomes]
rs4724660	0.81[AMR][1000 genomes]
rs4724661	0.81[AMR][1000 genomes]
rs59399629	0.81[AMR][1000 genomes]
rs62447062	0.81[AMR][1000 genomes]
rs62447070	0.81[AMR][1000 genomes]
rs62447081	0.86[AMR][1000 genomes]
rs6943832	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6949762	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6950006	0.81[GIH][hapmap];0.83[TSI][hapmap]
rs6950308	0.81[AMR][1000 genomes]
rs6958737	0.81[AMR][1000 genomes]
rs6961473	0.85[GIH][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes]
rs6965759	0.81[GIH][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs6972918	0.81[GIH][hapmap];0.81[TSI][hapmap]
rs73105163	0.81[AMR][1000 genomes]
rs753432	0.81[AMR][1000 genomes]
rs7790593	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9690002	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9691249	0.83[AMR][1000 genomes]
rs9691425	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9691969	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9918570	0.81[AMR][1000 genomes]
rs9918571	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv606892	chr7:47903141-47930180	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv3344651	chr7:47918752-47921125	Weak transcription Genic enhancers Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9691411	DDC	cis	parietal	SCAN
rs9691411	GSTM1	trans	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47903200-47922400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:47903200-47923800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:47903400-47945000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:47906200-47923000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:47913600-47929600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:47916400-47949000	Weak transcription	Right Ventricle	heart
7	chr7:47918200-47935200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:47918400-47926600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:47918400-47926800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:47918600-47922400	Weak transcription	Right Atrium	heart
11	chr7:47918800-47922400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:47918800-47922400	Weak transcription	Left Ventricle	heart
13	chr7:47918800-47922600	Weak transcription	Fetal Heart	heart
14	chr7:47920400-47921000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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