Variant report

Variant	rs2595146
Chromosome Location	chr2:114549795-114549796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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]
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	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];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]
rs57221018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114549000-114550000	Enhancers	Fetal Intestine Small	intestine
2	chr2:114549000-114550000	Enhancers	HSMM	muscle
3	chr2:114549000-114550400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:114549200-114549800	Active TSS	A549	lung
5	chr2:114549200-114550000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:114549200-114550200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:114549200-114550200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:114549200-114550200	Enhancers	NHLF	lung
9	chr2:114549200-114550400	Enhancers	Fetal Kidney	kidney
10	chr2:114549400-114549800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:114549400-114549800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr2:114549400-114549800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr2:114549400-114549800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:114549400-114549800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:114549400-114549800	Weak transcription	Small Intestine	intestine
16	chr2:114549400-114549800	Enhancers	HepG2	liver
17	chr2:114549400-114549800	Active TSS	Osteobl	bone
18	chr2:114549400-114550000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:114549400-114550000	Active TSS	Duodenum Mucosa	Duodenum
20	chr2:114549400-114550000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr2:114549400-114550000	Active TSS	HMEC	breast
22	chr2:114549400-114550200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:114549400-114550200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:114549400-114550200	Enhancers	Fetal Intestine Large	intestine
25	chr2:114549400-114550200	Flanking Active TSS	GM12878-XiMat	blood
26	chr2:114549600-114549800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:114549600-114549800	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr2:114549600-114550000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:114549600-114550000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:114549600-114550000	Active TSS	NHDF-Ad	bronchial
31	chr2:114549600-114550200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:114549600-114550200	Enhancers	Rectal Mucosa Donor 31	rectum

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