Variant report

Variant	rs2160237
Chromosome Location	chr2:40547186-40547187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11888123	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11904139	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477001	0.82[ASN][1000 genomes]
rs1990608	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2110744	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2160236	0.84[CEU][hapmap];0.94[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4952402	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6544315	0.85[ASN][1000 genomes]
rs6544316	0.85[ASN][1000 genomes]
rs6544317	0.85[ASN][1000 genomes]
rs6544318	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748881	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759384	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs998260	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40532000-40551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:40538000-40552000	Weak transcription	Left Ventricle	heart
3	chr2:40542400-40549600	Enhancers	Fetal Heart	heart
4	chr2:40542400-40559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:40542800-40556400	Weak transcription	Fetal Stomach	stomach
6	chr2:40543200-40549400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:40543400-40551600	Weak transcription	Fetal Kidney	kidney
9	chr2:40545000-40552000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:40545200-40549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:40545200-40549000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:40545200-40559200	Weak transcription	HSMM	muscle
13	chr2:40545400-40547800	Weak transcription	Fetal Lung	lung
14	chr2:40545400-40548800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:40545400-40549000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:40545400-40549000	Weak transcription	NHDF-Ad	bronchial
17	chr2:40545400-40549400	Weak transcription	NHLF	lung
18	chr2:40545400-40553200	Weak transcription	Right Ventricle	heart
19	chr2:40545600-40556000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:40545800-40547200	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:40545800-40548800	Weak transcription	Osteobl	bone
22	chr2:40546200-40547200	Weak transcription	Small Intestine	intestine
23	chr2:40546600-40555600	Weak transcription	Colon Smooth Muscle	Colon

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