Variant report

Variant	rs10052354
Chromosome Location	chr5:95584089-95584090
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:35)

rs_ID	r²[population]
rs10065122	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10074626	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476663	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10476666	0.85[ASN][1000 genomes]
rs10866767	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs11950062	0.85[ASN][1000 genomes]
rs11959068	0.89[AFR][1000 genomes]
rs12054709	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12522310	0.85[ASN][1000 genomes]
rs13183436	0.83[ASN][1000 genomes]
rs28757605	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3922467	0.80[AFR][1000 genomes]
rs4077816	0.91[CEU][hapmap]
rs4288139	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4336380	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4355545	0.91[AFR][1000 genomes];0.95[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	0.87[CEU][hapmap]
rs4869270	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4869282	0.84[ASN][1000 genomes]
rs6556913	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6556914	0.85[ASN][1000 genomes]
rs6864629	0.85[ASN][1000 genomes]
rs6866846	0.81[AFR][1000 genomes]
rs6868247	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6868724	0.85[ASN][1000 genomes]
rs6882897	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6899303	0.84[ASN][1000 genomes]
rs7443470	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7706771	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714279	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7714951	0.85[ASN][1000 genomes]
rs7716096	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7733672	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7737206	0.85[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95578000-95584200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr5:95579200-95584400	Enhancers	HSMM	muscle
3	chr5:95579400-95584200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:95581000-95585400	Enhancers	Fetal Lung	lung
5	chr5:95581600-95584200	Enhancers	Pancreas	Pancrea
6	chr5:95581800-95585000	Enhancers	HepG2	liver
7	chr5:95582200-95584200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:95582200-95584200	Enhancers	Fetal Brain Female	brain
9	chr5:95582200-95585800	Enhancers	Fetal Brain Male	brain
10	chr5:95582400-95584200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:95582400-95584200	Enhancers	NHLF	lung
12	chr5:95582400-95584600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:95582600-95584200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr5:95582800-95584200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:95582800-95584200	Enhancers	Left Ventricle	heart
16	chr5:95582800-95584200	Enhancers	Stomach Mucosa	stomach
17	chr5:95582800-95584800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:95582800-95584800	Enhancers	Fetal Heart	heart
19	chr5:95582800-95585200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:95583200-95584200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:95583200-95584800	Flanking Active TSS	NHEK	skin
22	chr5:95583200-95590200	Weak transcription	A549	lung
23	chr5:95583200-95595200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:95583400-95584200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:95583400-95584200	Enhancers	Fetal Intestine Small	intestine
26	chr5:95583400-95584600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:95583600-95584200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:95583600-95584200	Enhancers	Duodenum Mucosa	Duodenum
29	chr5:95583600-95584200	Enhancers	Right Ventricle	heart
30	chr5:95583600-95584800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:95583600-95584800	Enhancers	Liver	Liver
32	chr5:95583600-95586000	Weak transcription	Esophagus	oesophagus
33	chr5:95583800-95584200	Enhancers	Brain Substantia Nigra	brain
34	chr5:95583800-95584400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:95583800-95584600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:95583800-95584600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:95583800-95585200	Enhancers	HMEC	breast
38	chr5:95583800-95588800	Weak transcription	NH-A	brain
39	chr5:95583800-95590800	Weak transcription	Aorta	Aorta
40	chr5:95583800-95595000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:95583800-95595000	Weak transcription	Psoas Muscle	Psoas
42	chr5:95584000-95584200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:95584000-95584800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:95584000-95588400	Weak transcription	Osteobl	bone
45	chr5:95584000-95590600	Weak transcription	HSMMtube	muscle
46	chr5:95584000-95592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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