Variant report

Variant	rs12066332
Chromosome Location	chr1:97670644-97670645
allele	C/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:16)

rs_ID	r²[population]
rs11165808	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12083975	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088567	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093238	1.00[AMR][1000 genomes]
rs1514496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1709411	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4489611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67908389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67915441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72726631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs828056	0.86[AFR][1000 genomes]
rs9727438	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:97654200-97671200	Weak transcription	Small Intestine	intestine
2	chr1:97657200-97671200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:97658800-97672400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:97658800-97695600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:97659000-97697000	Weak transcription	Liver	Liver
6	chr1:97659400-97678200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:97659800-97671400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:97659800-97696000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:97660600-97698600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:97663600-97698600	Weak transcription	Primary T cells from cord blood	blood
11	chr1:97666600-97671200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:97666600-97697400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:97668800-97674000	Weak transcription	Stomach Mucosa	stomach
14	chr1:97669600-97670800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:97669600-97670800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:97669800-97670800	Enhancers	Adipose Nuclei	Adipose
17	chr1:97669800-97670800	Enhancers	NHLF	lung
18	chr1:97669800-97671600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:97670400-97675600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:97670600-97671600	Weak transcription	Aorta	Aorta

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