Variant report

Variant	rs11125607
Chromosome Location	chr2:56090113-56090114
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56088294..56090507-chr2:56095007..56097587,2	K562	blood:
2	chr2:56089463..56091242-chr2:56092326..56094493,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11125608	0.93[ASN][1000 genomes]
rs12478566	0.83[ASN][1000 genomes]
rs1344732	0.81[ASN][1000 genomes]
rs1346781	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1346783	0.86[ASN][1000 genomes]
rs1346787	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346790	0.96[ASN][1000 genomes]
rs1367225	0.81[ASN][1000 genomes]
rs1367226	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367228	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1430189	0.84[ASN][1000 genomes]
rs1430190	0.81[ASN][1000 genomes]
rs1430191	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1430203	0.93[ASN][1000 genomes]
rs1897114	0.93[ASN][1000 genomes]
rs1960050	0.91[ASN][1000 genomes]
rs1985160	0.81[ASN][1000 genomes]
rs1985162	0.81[ASN][1000 genomes]
rs2052933	0.84[ASN][1000 genomes]
rs2115876	0.89[ASN][1000 genomes]
rs2115878	0.86[ASN][1000 genomes]
rs3791676	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4352264	0.98[ASN][1000 genomes]
rs4672074	0.86[ASN][1000 genomes]
rs6545523	0.83[ASN][1000 genomes]
rs6545526	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545527	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708796	0.89[ASN][1000 genomes]
rs6712017	0.84[ASN][1000 genomes]
rs6714513	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs6733730	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743114	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749785	0.82[ASN][1000 genomes]
rs6751403	0.91[ASN][1000 genomes]
rs6753814	1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs6757057	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7426380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7572523	0.89[ASN][1000 genomes]
rs7607070	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7609520	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs934278	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56088200-56090800	Enhancers	HMEC	breast
2	chr2:56088200-56090800	Enhancers	NHDF-Ad	bronchial
3	chr2:56088600-56090200	Enhancers	Fetal Lung	lung
4	chr2:56088600-56090400	Enhancers	Adipose Nuclei	Adipose
5	chr2:56088600-56090800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:56088600-56090800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:56088600-56090800	Enhancers	NHEK	skin
8	chr2:56088600-56091000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:56088600-56092400	Enhancers	HUVEC	blood vessel
10	chr2:56089000-56090600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:56089200-56095000	Weak transcription	Aorta	Aorta
12	chr2:56089200-56097000	Weak transcription	Lung	lung
13	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
14	chr2:56089400-56090200	Enhancers	Stomach Mucosa	stomach
15	chr2:56089400-56090400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:56089400-56090600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:56089400-56091000	Enhancers	Osteobl	bone
18	chr2:56089400-56091200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:56089400-56093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:56089400-56097000	Weak transcription	Right Atrium	heart
21	chr2:56089600-56090400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:56089600-56090600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:56089600-56090800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:56089600-56091000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:56089600-56091200	Enhancers	Hela-S3	cervix
26	chr2:56089600-56091200	Enhancers	NH-A	brain
27	chr2:56089600-56091800	Weak transcription	Ovary	ovary
28	chr2:56089600-56092600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:56089600-56097000	Weak transcription	HSMMtube	muscle
30	chr2:56089800-56090200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:56089800-56090200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:56089800-56090200	Weak transcription	Placenta	Placenta
33	chr2:56089800-56090200	Enhancers	K562	blood
34	chr2:56089800-56090200	Weak transcription	NHLF	lung
35	chr2:56089800-56091800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:56089800-56092600	Weak transcription	HSMM	muscle
37	chr2:56089800-56098000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:56090000-56090200	Flanking Active TSS	A549	lung
39	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach

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