Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11883517	1.00[EUR][1000 genomes]
rs11884386	1.00[EUR][1000 genomes]
rs11893594	0.89[EUR][1000 genomes]
rs11898549	0.89[EUR][1000 genomes]
rs11900919	1.00[EUR][1000 genomes]
rs2595146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2595147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2595149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2595150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2922397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55904407	1.00[EUR][1000 genomes]
rs57637656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58503179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61017541	0.89[AFR][1000 genomes]
rs61237312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72946684	0.89[EUR][1000 genomes]
rs72946686	0.89[EUR][1000 genomes]
rs72946701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72946702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948606	1.00[EUR][1000 genomes]
rs72948653	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114550000-114552400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:114550000-114552600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:114550000-114552800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:114550000-114552800	Weak transcription	HSMM	muscle
5	chr2:114550000-114557000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:114550200-114552400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:114550200-114552400	Weak transcription	A549	lung
8	chr2:114550200-114552400	Weak transcription	Osteobl	bone
9	chr2:114550200-114552600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:114550200-114552600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:114550200-114552600	Weak transcription	NHLF	lung
12	chr2:114550200-114553000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:114550200-114555800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:114550200-114563800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:114550400-114552600	Weak transcription	Fetal Kidney	kidney
16	chr2:114550400-114552800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:114550600-114552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:114550800-114552600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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