Variant report

Variant	rs2274021
Chromosome Location	chr13:95034910-95034911
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10492629	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12323067	0.89[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs12584548	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12866362	0.91[GIH][hapmap]
rs12872566	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12873862	0.89[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12874033	0.89[CEU][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12877938	0.84[EUR][1000 genomes]
rs17253857	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1924115	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2274020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35071333	0.98[ASN][1000 genomes]
rs35333555	0.98[ASN][1000 genomes]
rs7333509	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8002396	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9516402	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9516404	0.82[JPT][hapmap]
rs9524463	0.85[JPT][hapmap]
rs9524471	0.98[ASN][1000 genomes]
rs9589972	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9589974	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9589984	0.88[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs9589986	0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.99[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	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv456077	chr13:94993032-95051560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv562755	chr13:94993032-95051560	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95024200-95035200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:95030000-95050000	Weak transcription	Ovary	ovary
3	chr13:95032200-95036400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:95033200-95035400	Weak transcription	Fetal Intestine Small	intestine
5	chr13:95033600-95035200	Flanking Active TSS	Fetal Heart	heart
6	chr13:95033800-95036200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:95033800-95055400	Weak transcription	HSMMtube	muscle
8	chr13:95034600-95035400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:95034600-95035600	Enhancers	Left Ventricle	heart
10	chr13:95034600-95035600	Enhancers	Right Atrium	heart
11	chr13:95034600-95035800	Enhancers	Fetal Muscle Trunk	muscle
12	chr13:95034800-95035000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr13:95034800-95035600	Enhancers	Fetal Brain Female	brain
14	chr13:95034800-95035600	Enhancers	Right Ventricle	heart
15	chr13:95034800-95037400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:95034800-95037800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:95034800-95050000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:95034800-95052800	Weak transcription	Fetal Stomach	stomach

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