Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1104356	1.00[AMR][1000 genomes]
rs1623888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1627100	0.80[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094468	1.00[AMR][1000 genomes]
rs1798019	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1798029	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1798030	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1798034	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55885620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56041151	1.00[AMR][1000 genomes]
rs56147425	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56341304	1.00[AMR][1000 genomes]
rs56888768	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57189846	1.00[AMR][1000 genomes]
rs58093009	1.00[AMR][1000 genomes]
rs58264920	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58491255	1.00[AMR][1000 genomes]
rs74085005	1.00[AMR][1000 genomes]
rs74085118	1.00[AMR][1000 genomes]
rs74087507	1.00[AMR][1000 genomes]
rs74087508	1.00[AMR][1000 genomes]
rs74087522	1.00[AMR][1000 genomes]
rs840763	0.80[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs840765	1.00[YRI][hapmap]

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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1612439	PUS7L	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44728400-44744800	Weak transcription	Esophagus	oesophagus
5	chr12:44734200-44736400	Enhancers	Colon Smooth Muscle	Colon
6	chr12:44735200-44736600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr12:44735600-44736200	Enhancers	Ovary	ovary
8	chr12:44735600-44736400	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:44735600-44736800	Enhancers	Fetal Kidney	kidney
10	chr12:44735800-44736800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:44736000-44736400	Enhancers	Fetal Intestine Small	intestine
12	chr12:44736000-44736400	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:44736000-44736800	Enhancers	Pancreas	Pancrea
14	chr12:44736000-44738400	Enhancers	Fetal Intestine Large	intestine

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