Variant report

Variant	rs67635817
Chromosome Location	chr1:221342492-221342493
allele	A/G
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[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118663	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11118664	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12120171	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12121213	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122167	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12123182	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12124230	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12126632	0.91[ASN][1000 genomes]
rs12127195	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12128432	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12140672	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341619	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1442462	0.80[ASN][1000 genomes]
rs1539140	0.92[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	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009536	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1935157	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2039956	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3920857	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4142351	0.81[ASN][1000 genomes]
rs4420085	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4427411	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57489853	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59093055	0.87[EUR][1000 genomes]
rs59098418	0.99[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	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6679997	0.80[ASN][1000 genomes]
rs6693821	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6698945	0.81[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	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517729	0.81[ASN][1000 genomes]
rs7522861	0.97[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	0.96[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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9431425	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431431	0.81[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:20 , 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	chr1:221336000-221342600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:221336600-221342600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:221336600-221343000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:221336800-221342600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:221337400-221342600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:221339600-221342600	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:221340600-221342600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:221340800-221344000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:221341000-221342600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:221341000-221343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:221341200-221343200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:221341600-221344000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:221341800-221342600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:221342000-221342600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:221342000-221344000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:221342200-221344000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:221342400-221342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:221342400-221343600	Enhancers	HUVEC	blood vessel
20	chr1:221342400-221343800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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