Variant report

Variant	rs10066822
Chromosome Location	chr5:112492827-112492828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112492254..112496189-chr5:112498530..112504608,6	K562	blood:
2	chr5:112492439..112494935-chr5:112498208..112500030,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10037994	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs10053937	1.00[CHB][hapmap]
rs10477488	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs10478112	0.87[AFR][1000 genomes]
rs13357890	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs13357974	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs13359897	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1373214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1373215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17135359	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs17135403	0.82[CHB][hapmap]
rs1867322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1867323	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2416307	0.86[ASN][1000 genomes]
rs6594690	0.81[AFR][1000 genomes]
rs6594691	0.83[AFR][1000 genomes]
rs7714691	0.87[AFR][1000 genomes]
rs7719036	0.89[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
3	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112483000-112496800	Weak transcription	HMEC	breast
6	chr5:112483200-112495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112483400-112494600	Weak transcription	Psoas Muscle	Psoas
8	chr5:112484200-112495600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:112485800-112495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:112486800-112494600	Weak transcription	Lung	lung
11	chr5:112486800-112500400	Weak transcription	Gastric	stomach
12	chr5:112487200-112498200	Weak transcription	Esophagus	oesophagus
13	chr5:112489200-112500000	Weak transcription	Liver	Liver
14	chr5:112490200-112498600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:112491000-112498800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:112491200-112493200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:112491600-112493000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:112491600-112493800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:112491800-112493600	Strong transcription	NHEK	skin
20	chr5:112492000-112493800	Enhancers	Left Ventricle	heart
21	chr5:112492200-112493800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:112492200-112495000	Enhancers	Fetal Heart	heart
23	chr5:112492200-112496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:112492200-112496200	Enhancers	Ovary	ovary
25	chr5:112492200-112497600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:112492400-112493000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:112492400-112497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:112492600-112494200	Enhancers	Right Ventricle	heart
29	chr5:112492800-112493400	Enhancers	Right Atrium	heart
30	chr5:112492800-112498600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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