Variant report

Variant	rs2442344
Chromosome Location	chr13:39235116-39235117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11147723	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11147724	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11147725	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17244358	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2053848	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2122208	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2122212	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2197879	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2442335	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2442339	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2442340	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2442341	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2442343	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2442373	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2442379	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2496418	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2496419	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2496420	0.95[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2496425	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35378642	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4329795	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55860060	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55922882	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6563629	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7331440	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7991701	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs895895	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs930659	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930660	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9566354	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576589	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576590	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576591	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9576592	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9576595	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9634754	0.87[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][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	nsv832584	chr13:39074265-39284724	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39231600-39238800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:39232000-39236000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:39232200-39236200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:39233000-39235400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:39233000-39240200	Enhancers	Fetal Lung	lung
6	chr13:39233600-39237200	Enhancers	Fetal Intestine Large	intestine
7	chr13:39234400-39236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:39234800-39236200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:39234800-39236400	Enhancers	Fetal Intestine Small	intestine
10	chr13:39234800-39236800	Enhancers	Fetal Kidney	kidney
11	chr13:39234800-39237000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:39234800-39239600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:39235000-39235200	Enhancers	Right Atrium	heart
14	chr13:39235000-39235200	Enhancers	Small Intestine	intestine
15	chr13:39235000-39235400	Enhancers	Aorta	Aorta
16	chr13:39235000-39235400	Enhancers	Fetal Brain Male	brain
17	chr13:39235000-39235400	Enhancers	Ovary	ovary
18	chr13:39235000-39236000	Enhancers	Brain Germinal Matrix	brain
19	chr13:39235000-39237200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:39235000-39238000	Enhancers	Fetal Heart	heart

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