Variant report

Variant	rs1444089
Chromosome Location	chr12:59466080-59466081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10506354	0.81[EUR][1000 genomes]
rs10735877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783935	0.82[EUR][1000 genomes]
rs10877204	0.82[EUR][1000 genomes]
rs1444090	0.87[EUR][1000 genomes]
rs17618789	1.00[CHB][hapmap]
rs1967546	0.81[EUR][1000 genomes]
rs2197332	0.83[EUR][1000 genomes]
rs2203085	0.81[EUR][1000 genomes]
rs2371977	0.81[EUR][1000 genomes]
rs2371978	0.81[EUR][1000 genomes]
rs6581229	0.82[EUR][1000 genomes]
rs7134004	0.84[EUR][1000 genomes]
rs907344	0.88[EUR][1000 genomes]
rs978615	0.86[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59454400-59471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59461400-59468800	Weak transcription	Fetal Stomach	stomach
3	chr12:59461400-59469400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:59461800-59469000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:59462200-59466400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:59464400-59469000	Weak transcription	Fetal Kidney	kidney
7	chr12:59464600-59468800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:59464600-59469000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:59464600-59470000	Weak transcription	HMEC	breast
10	chr12:59464800-59466400	Enhancers	HUVEC	blood vessel
11	chr12:59464800-59468600	Weak transcription	Fetal Lung	lung
12	chr12:59464800-59470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:59464800-59470000	Weak transcription	NHEK	skin
14	chr12:59465200-59470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:59465400-59467200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:59465600-59466200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:59465800-59470000	Weak transcription	Osteobl	bone
18	chr12:59465800-59478000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:59466000-59470400	Weak transcription	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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