Variant report

Variant	rs1830675
Chromosome Location	chr1:86810693-86810694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10158226	0.81[ASN][1000 genomes]
rs10782571	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873771	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873772	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873773	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873774	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10873775	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873776	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873778	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10873779	0.86[EUR][1000 genomes]
rs1116108	0.86[EUR][1000 genomes]
rs1116109	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161803	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161804	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161805	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11161806	0.86[EUR][1000 genomes]
rs11161807	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11161811	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11161813	0.84[EUR][1000 genomes]
rs11799437	0.86[EUR][1000 genomes]
rs11802019	0.84[EUR][1000 genomes]
rs11810689	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12028714	0.86[EUR][1000 genomes]
rs12031536	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12033867	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12036110	0.86[ASN][1000 genomes]
rs12046485	0.86[EUR][1000 genomes]
rs12072655	0.88[ASN][1000 genomes]
rs12131620	0.85[EUR][1000 genomes]
rs12138401	0.83[EUR][1000 genomes]
rs1407719	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1407720	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1413427	0.88[ASN][1000 genomes]
rs1413429	0.87[ASN][1000 genomes]
rs17372196	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1999600	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2031136	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2093612	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2181418	0.92[ASN][1000 genomes]
rs2210641	0.88[ASN][1000 genomes]
rs2273941	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273942	0.86[EUR][1000 genomes]
rs2275000	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2390096	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2390097	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2390098	0.86[EUR][1000 genomes]
rs2390099	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28782251	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2892924	0.85[ASN][1000 genomes]
rs35173920	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3737159	0.85[ASN][1000 genomes]
rs3737672	0.82[EUR][1000 genomes]
rs3945233	0.88[ASN][1000 genomes]
rs4534352	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4638096	0.87[EUR][1000 genomes]
rs4656026	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656044	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4656064	0.85[EUR][1000 genomes]
rs4656066	0.84[EUR][1000 genomes]
rs58200516	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6658025	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6674140	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6679600	0.86[EUR][1000 genomes]
rs6683267	0.86[EUR][1000 genomes]
rs6703576	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67799288	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7415758	0.87[ASN][1000 genomes]
rs7515651	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541004	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7553685	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7554545	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86805400-86817400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:86805600-86810800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:86805600-86810800	Weak transcription	Fetal Lung	lung
4	chr1:86806400-86823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:86806600-86810800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:86810400-86811000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:86810400-86819200	Weak transcription	NHLF	lung
9	chr1:86810600-86816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:86810600-86819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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