Variant report

Variant	rs12124452
Chromosome Location	chr1:186160836-186160837
allele	G/T
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:13)

rs_ID	r²[population]
rs1008840	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12121839	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12133358	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12136581	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1322375	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1885522	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58886405	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74134809	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74134811	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74136067	0.85[AFR][1000 genomes]
rs74136068	0.82[AFR][1000 genomes]
rs74136069	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs745278	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1009149	chr1:186147945-186206188	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1002503	chr1:186156060-186206188	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1003070	chr1:186157240-186202008	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186157400-186161200	Weak transcription	Esophagus	oesophagus
2	chr1:186157400-186163200	Weak transcription	Fetal Brain Male	brain
3	chr1:186157600-186161800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:186157600-186165000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:186158800-186161800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:186158800-186171200	Weak transcription	NHLF	lung
7	chr1:186159000-186161000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:186159000-186161000	Weak transcription	Left Ventricle	heart
9	chr1:186159000-186163200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:186159000-186164600	Weak transcription	Osteobl	bone
11	chr1:186159000-186167400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:186159200-186161000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:186159200-186161000	Weak transcription	HMEC	breast
14	chr1:186159200-186162400	Weak transcription	Adipose Nuclei	Adipose
15	chr1:186159200-186164000	Weak transcription	NHDF-Ad	bronchial
16	chr1:186159200-186164200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:186159200-186164600	Weak transcription	NH-A	brain
18	chr1:186159200-186164800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:186159200-186171000	Weak transcription	Fetal Lung	lung
20	chr1:186159400-186161200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:186160200-186161800	Strong transcription	Aorta	Aorta
22	chr1:186160600-186161200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:186160600-186162000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:186160800-186161800	Enhancers	Placenta Amnion	Placenta Amnion

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