Variant report

Variant	rs72830099
Chromosome Location	chr5:167171582-167171583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10064302	1.00[ASN][1000 genomes]
rs10064701	1.00[ASN][1000 genomes]
rs10068821	1.00[ASN][1000 genomes]
rs10072896	1.00[ASN][1000 genomes]
rs10454966	1.00[ASN][1000 genomes]
rs11948139	1.00[ASN][1000 genomes]
rs13357813	1.00[ASN][1000 genomes]
rs13357822	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13436693	1.00[ASN][1000 genomes]
rs17069188	1.00[ASN][1000 genomes]
rs1862875	1.00[ASN][1000 genomes]
rs2337001	1.00[ASN][1000 genomes]
rs34725756	1.00[ASN][1000 genomes]
rs35325704	1.00[ASN][1000 genomes]
rs4242225	1.00[ASN][1000 genomes]
rs4869077	1.00[ASN][1000 genomes]
rs57989047	1.00[ASN][1000 genomes]
rs66525444	1.00[ASN][1000 genomes]
rs66851511	1.00[ASN][1000 genomes]
rs72830072	1.00[AFR][1000 genomes]
rs72830077	1.00[AFR][1000 genomes]
rs72830079	1.00[AFR][1000 genomes]
rs72835627	1.00[AFR][1000 genomes]
rs7448951	1.00[ASN][1000 genomes]
rs9313387	1.00[ASN][1000 genomes]
rs9313388	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167169800-167171600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167170000-167171600	Enhancers	Hela-S3	cervix
3	chr5:167170000-167171600	Enhancers	NH-A	brain
4	chr5:167170000-167172200	Enhancers	HMEC	breast
5	chr5:167170000-167172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:167170200-167171600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:167170200-167171600	Enhancers	HSMMtube	muscle
8	chr5:167170200-167171600	Enhancers	Osteobl	bone
9	chr5:167170200-167171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:167170200-167171800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:167170400-167177200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:167170600-167171600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:167170600-167171600	Enhancers	NHDF-Ad	bronchial
14	chr5:167170800-167171600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:167170800-167171600	Enhancers	Fetal Lung	lung
16	chr5:167170800-167171600	Flanking Active TSS	A549	lung
17	chr5:167171000-167171600	Enhancers	Adipose Nuclei	Adipose
18	chr5:167171000-167171600	Enhancers	NHLF	lung
19	chr5:167171000-167171800	Enhancers	Pancreas	Pancrea
20	chr5:167171000-167171800	Enhancers	HSMM	muscle
21	chr5:167171000-167172600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:167171000-167181200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:167171200-167171600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:167171200-167171800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:167171400-167171600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:167171400-167171600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:167171400-167171600	Flanking Active TSS	NHEK	skin
28	chr5:167171400-167172600	Weak transcription	Fetal Heart	heart

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