Variant report

Variant	rs17122071
Chromosome Location	chr12:59481495-59481496
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	chr12:58934165..58934990-chr12:59480959..59481541,2	MCF-7	breast:
2	chr12:59301538..59302531-chr12:59480961..59481505,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17122080	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17122101	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
2	chr12:59478600-59482400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:59479000-59482400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:59479000-59494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:59479200-59489600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:59479400-59482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:59479600-59482600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:59480200-59482400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:59480400-59483200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:59480600-59482200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:59480600-59482400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:59480600-59486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:59480600-59494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:59480800-59482200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:59480800-59482400	Weak transcription	NHDF-Ad	bronchial
16	chr12:59480800-59482400	Weak transcription	NHLF	lung
17	chr12:59480800-59482600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:59480800-59487200	Weak transcription	HMEC	breast
19	chr12:59480800-59490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:59481000-59482200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:59481000-59486400	Weak transcription	NHEK	skin
22	chr12:59481400-59486000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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