Variant report

Variant	rs12989021
Chromosome Location	chr2:67801535-67801536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10490723	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12477088	0.89[ASN][1000 genomes]
rs12618268	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12986714	0.82[ASN][1000 genomes]
rs12987509	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12992403	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12993096	0.82[ASN][1000 genomes]
rs12997331	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13003698	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13005138	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13013880	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13019532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13021903	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13023342	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025342	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13025376	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13028371	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1430786	0.82[ASN][1000 genomes]
rs17033996	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2861683	0.89[ASN][1000 genomes]
rs2861685	0.89[ASN][1000 genomes]
rs2861691	0.88[ASN][1000 genomes]
rs34724856	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35002785	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35179846	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35820615	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4362542	0.87[ASN][1000 genomes]
rs4465757	0.83[ASN][1000 genomes]
rs4542832	0.94[ASN][1000 genomes]
rs62156279	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546315	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546319	0.88[ASN][1000 genomes]
rs6731513	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6732490	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6746168	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6756226	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6760893	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs980226	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67793800-67803000	Weak transcription	Fetal Stomach	stomach
2	chr2:67795600-67802800	Weak transcription	Fetal Lung	lung
3	chr2:67798200-67801800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:67798600-67801800	Enhancers	HMEC	breast
5	chr2:67799000-67801800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:67799200-67801800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:67799400-67801800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:67799400-67801800	Enhancers	Stomach Mucosa	stomach
9	chr2:67799400-67802000	Enhancers	NHDF-Ad	bronchial
10	chr2:67799600-67801800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:67799600-67801800	Enhancers	NH-A	brain
12	chr2:67799600-67801800	Enhancers	NHLF	lung
13	chr2:67799800-67801800	Enhancers	Osteobl	bone
14	chr2:67799800-67802000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:67800000-67801800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:67800200-67801800	Enhancers	HSMM	muscle
17	chr2:67800400-67801800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:67800400-67801800	Enhancers	NHEK	skin
19	chr2:67800600-67801600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:67800600-67801800	Enhancers	A549	lung
21	chr2:67800600-67802000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:67800600-67802000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:67801200-67801800	Enhancers	HUVEC	blood vessel
24	chr2:67801200-67803400	Enhancers	Hela-S3	cervix
25	chr2:67801200-67806400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:67801400-67801800	Enhancers	HSMMtube	muscle

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