Variant report

Variant	rs12134570
Chromosome Location	chr1:173090994-173090995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10798255	0.81[AMR][1000 genomes]
rs10798261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583787	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11583801	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12060864	0.81[AFR][1000 genomes]
rs12757847	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17372135	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34032561	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6699806	0.92[ASN][1000 genomes]
rs720455	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs722541	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7515451	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997331	0.81[AFR][1000 genomes];0.92[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	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173081600-173091200	Weak transcription	NHDF-Ad	bronchial
2	chr1:173082400-173091200	Weak transcription	NHLF	lung
3	chr1:173082800-173091000	Weak transcription	HSMM	muscle
4	chr1:173084400-173091000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:173086600-173091400	Weak transcription	Fetal Heart	heart
6	chr1:173086600-173091800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:173087000-173091000	Weak transcription	Fetal Lung	lung
8	chr1:173087000-173091000	Weak transcription	HUVEC	blood vessel
9	chr1:173087600-173091000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:173087600-173091200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:173087600-173092600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:173088800-173091800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:173089000-173091600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:173089800-173091800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:173090000-173091800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:173090600-173091000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:173090600-173092000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:173090800-173091800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:173090800-173091800	Weak transcription	Placenta	Placenta
20	chr1:173090800-173092000	Enhancers	Fetal Kidney	kidney

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