Variant report

Variant	rs12140672
Chromosome Location	chr1:221334677-221334678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11118648	0.83[EUR][1000 genomes]
rs11118652	0.81[ASN][1000 genomes]
rs11118653	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11118662	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118663	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11118664	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12120171	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12121213	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122167	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12123182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12124230	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12126632	0.91[ASN][1000 genomes]
rs12127195	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12128432	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1341619	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1442462	0.80[ASN][1000 genomes]
rs1539140	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1596173	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17009398	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17009529	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009536	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1935157	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2039956	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3920857	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4142351	0.81[ASN][1000 genomes]
rs4420085	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4427411	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57489853	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59093055	0.87[EUR][1000 genomes]
rs59098418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819242	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6670400	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6679997	0.80[ASN][1000 genomes]
rs6693821	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6698945	0.81[ASN][1000 genomes]
rs67635817	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs715300	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72742507	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7354867	0.81[ASN][1000 genomes]
rs7511784	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7515181	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517729	0.81[ASN][1000 genomes]
rs7522861	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7523927	0.80[ASN][1000 genomes]
rs7526270	0.81[ASN][1000 genomes]
rs7539794	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7544056	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7554672	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9431057	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9431425	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431431	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:221329400-221342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221331200-221334800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221331600-221335000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:221332000-221334800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:221333400-221334800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:221333400-221334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:221333400-221335800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:221333600-221334800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:221334400-221334800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:221334400-221336000	Enhancers	Colon Smooth Muscle	Colon
11	chr1:221334400-221336000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:221334400-221336200	Enhancers	Adipose Nuclei	Adipose
13	chr1:221334400-221336200	Enhancers	Osteobl	bone
14	chr1:221334400-221336600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:221334400-221336800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:221334400-221339800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:221334400-221339800	Enhancers	HUVEC	blood vessel
18	chr1:221334400-221340800	Enhancers	NHDF-Ad	bronchial
19	chr1:221334600-221335200	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:221334600-221335800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:221334600-221336400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:221334600-221338000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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