Variant report

Variant	rs62071728
Chromosome Location	chr17:15621079-15621080
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9303131	0.84[AMR][1000 genomes]
rs9905520	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv907705	chr17:15611495-15717546	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62071728	ZNF286A	cis	multi-tissue	Pritchard
rs62071728	ZNF286A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15604200-15623800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:15604400-15623800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:15604800-15623400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:15607000-15623400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr17:15608200-15621200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:15608400-15623800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr17:15608400-15623800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:15612000-15621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:15614200-15623600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr17:15614600-15621200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:15614600-15623400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr17:15614600-15623400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:15614800-15623400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr17:15616000-15622000	ZNF genes & repeats	Liver	Liver
15	chr17:15616200-15621200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:15616800-15626200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:15617800-15623800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:15618400-15623200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr17:15618600-15622000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:15618800-15623400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr17:15619000-15621400	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr17:15619000-15622000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr17:15619000-15623200	ZNF genes & repeats	A549	lung
24	chr17:15619000-15623400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr17:15619000-15623800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:15619200-15621200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr17:15619600-15622800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:15620000-15621400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
29	chr17:15620000-15621800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:15620400-15621200	ZNF genes & repeats	Fetal Brain Female	brain
31	chr17:15620400-15621200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr17:15620400-15622800	Weak transcription	Brain Germinal Matrix	brain
33	chr17:15620600-15621200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr17:15620600-15623200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:15621000-15621800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:15621000-15621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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