Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11884386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11893594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11898549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11900919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2595146	1.00[EUR][1000 genomes]
rs2595147	1.00[EUR][1000 genomes]
rs2595149	0.89[EUR][1000 genomes]
rs2595150	1.00[EUR][1000 genomes]
rs2687625	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2922397	1.00[EUR][1000 genomes]
rs55904407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57221018	1.00[EUR][1000 genomes]
rs57637656	1.00[EUR][1000 genomes]
rs58503179	1.00[EUR][1000 genomes]
rs61237312	1.00[EUR][1000 genomes]
rs72946684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72946686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72946701	1.00[EUR][1000 genomes]
rs72946702	1.00[EUR][1000 genomes]
rs72948606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11883517	JARID2	trans	lymphoblastoid	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114550000-114557000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:114550200-114555800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:114550200-114563800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:114552600-114553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:114552600-114554400	Enhancers	Fetal Intestine Small	intestine
6	chr2:114552800-114553800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:114552800-114553800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:114552800-114553800	Enhancers	Colonic Mucosa	Colon
9	chr2:114552800-114553800	Enhancers	Left Ventricle	heart
10	chr2:114552800-114555000	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:114553200-114554600	Weak transcription	Fetal Intestine Large	intestine
12	chr2:114553200-114557200	Weak transcription	Osteobl	bone
13	chr2:114553400-114554400	Weak transcription	Fetal Kidney	kidney
14	chr2:114553400-114554400	Weak transcription	HepG2	liver
15	chr2:114553400-114554600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:114553600-114557200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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