Variant report

Variant	rs11615860
Chromosome Location	chr12:30175212-30175213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10506052	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11609988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11615813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580161	0.97[ASN][1000 genomes]
rs12809401	0.96[ASN][1000 genomes]
rs12809421	0.96[ASN][1000 genomes]
rs12809796	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12811068	0.97[ASN][1000 genomes]
rs12811504	0.97[ASN][1000 genomes]
rs12815024	0.97[ASN][1000 genomes]
rs12817452	0.97[ASN][1000 genomes]
rs12818351	0.97[ASN][1000 genomes]
rs12818606	0.97[ASN][1000 genomes]
rs12819312	0.97[ASN][1000 genomes]
rs12819535	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12822379	0.97[ASN][1000 genomes]
rs12822894	0.97[ASN][1000 genomes]
rs12823054	0.90[ASN][1000 genomes]
rs12828870	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12829150	0.97[ASN][1000 genomes]
rs12829697	0.97[ASN][1000 genomes]
rs12830126	0.97[ASN][1000 genomes]
rs12831115	0.92[ASN][1000 genomes]
rs12831163	0.97[ASN][1000 genomes]
rs12833660	0.96[ASN][1000 genomes]
rs16935260	0.92[ASN][1000 genomes]
rs1909145	0.97[ASN][1000 genomes]
rs1995149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995150	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34442210	0.92[ASN][1000 genomes]
rs35805515	0.92[ASN][1000 genomes]
rs4930871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314898	0.97[ASN][1000 genomes]
rs7315007	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv826295	chr12:30130336-30207775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11615860	TM7SF3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30162200-30175400	Weak transcription	Aorta	Aorta
2	chr12:30169000-30177800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:30169200-30177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:30172600-30176000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:30172600-30178000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:30173600-30175800	Enhancers	Fetal Stomach	stomach
7	chr12:30174200-30175400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:30174200-30175800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:30175000-30175400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:30175000-30175800	Weak transcription	Fetal Lung	lung

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