Variant report

Variant	rs72830076
Chromosome Location	chr5:167125025-167125026
allele	A/G
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:24)

rs_ID	r²[population]
rs10058151	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065273	0.97[EUR][1000 genomes]
rs11744500	1.00[ASN][1000 genomes]
rs55814675	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56111454	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62382816	1.00[ASN][1000 genomes]
rs6555766	1.00[ASN][1000 genomes]
rs6876801	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898027	0.97[EUR][1000 genomes]
rs72819682	1.00[ASN][1000 genomes]
rs72819683	1.00[ASN][1000 genomes]
rs72819696	1.00[ASN][1000 genomes]
rs72819701	1.00[ASN][1000 genomes]
rs72821806	1.00[ASN][1000 genomes]
rs72829393	1.00[ASN][1000 genomes]
rs72830072	1.00[ASN][1000 genomes]
rs72830077	1.00[ASN][1000 genomes]
rs72830079	1.00[ASN][1000 genomes]
rs72830082	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830085	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830087	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835627	1.00[ASN][1000 genomes]
rs7732135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
4	nsv5115	chr5:167101911-167147020	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv16566	chr5:167118388-167126431	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167111400-167125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167116200-167125400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167121600-167125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:167122000-167125400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:167123400-167128800	Enhancers	HSMM	muscle
6	chr5:167123800-167126800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:167124000-167125200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:167124000-167125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:167124000-167126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:167124000-167127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:167124200-167125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:167124200-167125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:167124200-167125200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:167124200-167125200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:167124200-167125200	Weak transcription	A549	lung
16	chr5:167124200-167125200	Weak transcription	HSMMtube	muscle
17	chr5:167124200-167125200	Weak transcription	NHDF-Ad	bronchial
18	chr5:167124200-167125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:167124200-167129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:167124400-167126200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:167124800-167128600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:167125000-167126200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:167125000-167126800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:167125000-167129400	Enhancers	Hela-S3	cervix
25	chr5:167125000-167129400	Enhancers	HMEC	breast
26	chr5:167125000-167129400	Enhancers	NHEK	skin

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