Variant report

Variant	rs17122469
Chromosome Location	chr12:59797663-59797664
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17122421	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122482	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122488	1.00[AMR][1000 genomes]
rs58252840	1.00[AMR][1000 genomes]
rs74094829	0.81[AFR][1000 genomes];1.00[AMR][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	nsv559052	chr12:59532203-59809256	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59797000-59797800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr12:59797000-59797800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:59797000-59797800	Enhancers	Adipose Nuclei	Adipose
4	chr12:59797000-59797800	Enhancers	Fetal Heart	heart
5	chr12:59797000-59797800	Enhancers	Fetal Lung	lung
6	chr12:59797200-59797800	Active TSS	Brain Hippocampus Middle	brain
7	chr12:59797200-59797800	Active TSS	NHEK	skin
8	chr12:59797200-59798000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:59797400-59797800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:59797400-59797800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:59797400-59797800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:59797400-59797800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:59797400-59797800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr12:59797400-59797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:59797400-59797800	Flanking Active TSS	Liver	Liver
16	chr12:59797400-59797800	Active TSS	Brain Cingulate Gyrus	brain
17	chr12:59797400-59797800	Active TSS	Brain Substantia Nigra	brain
18	chr12:59797400-59797800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr12:59797400-59797800	Flanking Active TSS	HMEC	breast
20	chr12:59797400-59797800	Flanking Active TSS	HUVEC	blood vessel
21	chr12:59797400-59797800	Active TSS	NHDF-Ad	bronchial
22	chr12:59797400-59797800	Active TSS	NHLF	lung
23	chr12:59797400-59797800	Active TSS	Osteobl	bone
24	chr12:59797400-59798000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:59797400-59798400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:59797600-59797800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:59797600-59797800	Active TSS	Brain Anterior Caudate	brain
28	chr12:59797600-59802200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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