Variant report

Variant	rs12054709
Chromosome Location	chr5:95591580-95591581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10052354	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10065122	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10074626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10476663	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10476666	0.83[ASN][1000 genomes]
rs10866767	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs11950062	0.83[ASN][1000 genomes]
rs11959068	0.89[AFR][1000 genomes]
rs12522310	0.83[ASN][1000 genomes]
rs13163809	0.82[ASN][1000 genomes]
rs13183436	0.85[ASN][1000 genomes]
rs28757605	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3922467	0.80[AFR][1000 genomes]
rs4077816	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs4288139	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4336380	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4355545	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4357059	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4379224	0.92[CEU][hapmap]
rs4529218	0.86[LWK][hapmap]
rs4869270	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4869282	0.82[ASN][1000 genomes]
rs6556913	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6556914	0.83[ASN][1000 genomes]
rs6864629	0.83[ASN][1000 genomes]
rs6866846	0.81[AFR][1000 genomes]
rs6868247	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6868724	0.83[ASN][1000 genomes]
rs6882897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6899303	0.82[ASN][1000 genomes]
rs7443470	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706771	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714279	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7714951	0.83[ASN][1000 genomes]
rs7716096	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7733672	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7737206	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95583200-95595200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:95583800-95595000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:95583800-95595000	Weak transcription	Psoas Muscle	Psoas
4	chr5:95584000-95592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:95585000-95594600	Weak transcription	HepG2	liver
6	chr5:95586200-95595000	Weak transcription	Pancreas	Pancrea
7	chr5:95587800-95595400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:95588000-95592000	Enhancers	HMEC	breast
9	chr5:95588200-95596600	Enhancers	HUVEC	blood vessel
10	chr5:95588400-95596000	Enhancers	Osteobl	bone
11	chr5:95589400-95592000	Enhancers	NHEK	skin
12	chr5:95589600-95591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:95589800-95596800	Enhancers	HSMM	muscle
14	chr5:95590000-95595600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:95590200-95591800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:95590200-95592000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:95590200-95593200	Enhancers	NHLF	lung
18	chr5:95590400-95591800	Flanking Active TSS	A549	lung
19	chr5:95590600-95591600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:95590600-95591800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:95590600-95591800	Enhancers	HSMMtube	muscle
22	chr5:95590800-95591600	Enhancers	Fetal Lung	lung
23	chr5:95590800-95591800	Enhancers	Adipose Nuclei	Adipose
24	chr5:95590800-95591800	Flanking Active TSS	NHDF-Ad	bronchial
25	chr5:95590800-95592000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:95591200-95591600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:95591200-95591800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:95591200-95592000	Enhancers	Hela-S3	cervix
29	chr5:95591200-95595200	Weak transcription	Aorta	Aorta
30	chr5:95591200-95595800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:95591400-95591600	Flanking Active TSS	NH-A	brain
32	chr5:95591400-95591800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:95591400-95595000	Weak transcription	Stomach Mucosa	stomach
34	chr5:95591400-95596600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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