Variant report

Variant	rs12612998
Chromosome Location	chr2:152772098-152772099
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1028211	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10497089	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12613143	0.89[EUR][1000 genomes]
rs12618445	0.85[EUR][1000 genomes]
rs12623883	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16830446	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16830462	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16830500	0.85[EUR][1000 genomes]
rs16830513	0.85[EUR][1000 genomes]
rs16830527	0.85[EUR][1000 genomes]
rs2345155	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4553822	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56102216	0.89[EUR][1000 genomes]
rs57006319	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58371252	0.83[EUR][1000 genomes]
rs59318980	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433714	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725269	0.85[EUR][1000 genomes]
rs6733800	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734486	0.87[ASN][1000 genomes]
rs7566512	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr2:152765200-152775000	Weak transcription	Left Ventricle	heart
2	chr2:152765200-152778800	Weak transcription	Brain Anterior Caudate	brain
3	chr2:152765400-152772800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:152765400-152775200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:152765400-152777600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:152767800-152774200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:152767800-152780400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:152769200-152772400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:152771000-152773400	Enhancers	Placenta	Placenta
10	chr2:152771000-152774400	Enhancers	Primary B cells from cord blood	blood
11	chr2:152771200-152772200	Enhancers	Spleen	Spleen
12	chr2:152771400-152772600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:152771400-152772600	Enhancers	Lung	lung
14	chr2:152771400-152773800	Enhancers	Adipose Nuclei	Adipose
15	chr2:152771600-152772200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:152771600-152772600	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:152771800-152772200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:152771800-152772200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:152771800-152773200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:152771800-152775000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:152771800-152778800	Weak transcription	Psoas Muscle	Psoas
22	chr2:152771800-152779400	Weak transcription	Brain Hippocampus Middle	brain

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