Variant report

Variant	rs13436693
Chromosome Location	chr5:167170953-167170954
allele	A/C
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:25)

rs_ID	r²[population]
rs10060956	0.86[CEU][hapmap]
rs10064302	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064701	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068821	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072896	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454966	1.00[ASN][1000 genomes]
rs11948139	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357813	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357822	1.00[ASN][1000 genomes]
rs1549310	0.85[CEU][hapmap]
rs17069188	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862875	1.00[ASN][1000 genomes]
rs2337001	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34725756	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325704	1.00[ASN][1000 genomes]
rs4242225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869077	1.00[ASN][1000 genomes]
rs57989047	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66525444	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851511	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869167	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs72830099	1.00[ASN][1000 genomes]
rs7448951	1.00[ASN][1000 genomes]
rs9313387	1.00[ASN][1000 genomes]
rs9313388	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription 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	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167159200-167171000	Weak transcription	HSMM	muscle
2	chr5:167167000-167171200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:167169800-167171600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167170000-167171000	Enhancers	NHEK	skin
5	chr5:167170000-167171200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:167170000-167171400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:167170000-167171600	Enhancers	Hela-S3	cervix
8	chr5:167170000-167171600	Enhancers	NH-A	brain
9	chr5:167170000-167172200	Enhancers	HMEC	breast
10	chr5:167170000-167172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167170200-167171000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:167170200-167171600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:167170200-167171600	Enhancers	HSMMtube	muscle
14	chr5:167170200-167171600	Enhancers	Osteobl	bone
15	chr5:167170200-167171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:167170200-167171800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:167170400-167171000	Weak transcription	Adipose Nuclei	Adipose
18	chr5:167170400-167171000	Weak transcription	Pancreas	Pancrea
19	chr5:167170400-167177200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:167170600-167171000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:167170600-167171200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:167170600-167171200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:167170600-167171400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:167170600-167171400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:167170600-167171600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:167170600-167171600	Enhancers	NHDF-Ad	bronchial
27	chr5:167170800-167171600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:167170800-167171600	Enhancers	Fetal Lung	lung
29	chr5:167170800-167171600	Flanking Active TSS	A549	lung

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