Variant report

Variant	rs4662413
Chromosome Location	chr2:145798956-145798957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10496971	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10496972	0.81[AMR][1000 genomes]
rs12616953	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12618061	0.87[AMR][1000 genomes]
rs12990539	0.87[AMR][1000 genomes]
rs12990953	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13001583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13004410	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009916	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13010262	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13033869	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1371047	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16824386	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1898732	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1918876	0.80[GIH][hapmap]
rs2381685	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34409381	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34985138	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56014517	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67431032	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67969609	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7561039	0.81[AMR][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145789200-145802400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145795000-145799000	Weak transcription	Aorta	Aorta
3	chr2:145796000-145799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:145796000-145808600	Weak transcription	Ovary	ovary
5	chr2:145796200-145799400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:145796200-145799600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:145796200-145800600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:145796200-145801000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:145796200-145801000	Weak transcription	Left Ventricle	heart
10	chr2:145796200-145802400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:145796400-145799400	Weak transcription	A549	lung
12	chr2:145796400-145799600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:145797400-145799200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:145797600-145799000	Weak transcription	NHDF-Ad	bronchial
15	chr2:145797800-145799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:145798800-145799600	Enhancers	Osteobl	bone

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