Variant report

Variant	rs12130377
Chromosome Location	chr1:222169546-222169547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222163800..222166412-chr1:222168403..222170793,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10863672	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10863673	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11118913	0.86[ASN][1000 genomes]
rs11118914	0.86[ASN][1000 genomes]
rs11118917	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118919	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1156668	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133266	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1339872	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2790758	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2800856	0.98[ASN][1000 genomes]
rs4475760	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4503353	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6604695	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6671937	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7546586	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222163600-222169800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:222165000-222171600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222165800-222172000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:222166600-222171800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:222167000-222172000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:222168600-222170600	Weak transcription	Fetal Lung	lung
7	chr1:222169000-222169600	Enhancers	Brain Hippocampus Middle	brain
8	chr1:222169000-222170200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:222169200-222170200	Weak transcription	HSMM	muscle
10	chr1:222169200-222170200	Weak transcription	NH-A	brain
11	chr1:222169200-222170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:222169200-222170400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:222169200-222170600	Weak transcription	Osteobl	bone
14	chr1:222169200-222171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:222169200-222171600	Weak transcription	NHLF	lung
16	chr1:222169200-222184000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:222169400-222170400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:222169400-222170400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:222169400-222170600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:222169400-222170600	Weak transcription	HMEC	breast
21	chr1:222169400-222171400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:222169400-222171600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:222169400-222171600	Weak transcription	NHDF-Ad	bronchial

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