Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10908810	0.83[AFR][1000 genomes]
rs11265522	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11265526	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11265533	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11265534	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11805631	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12126310	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12135639	0.84[AFR][1000 genomes]
rs1981048	0.81[AMR][1000 genomes]
rs28368883	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34655593	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3829790	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3928803	0.80[EUR][1000 genomes]
rs4656968	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4656971	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4656972	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61802165	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6656769	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6680969	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6691389	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7526396	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs955615	0.88[AMR][1000 genomes];0.84[EUR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv947200	chr1:160870136-160905390	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2184066	RP11-312J18.6	cis	Thyroid	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160880000-160884400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:160880600-160884000	Enhancers	Fetal Intestine Small	intestine
3	chr1:160882800-160884800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:160883200-160884200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:160883200-160884200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:160883400-160884000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:160883400-160884400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:160883600-160884000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:160883600-160884400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:160883800-160884000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:160883800-160884200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:160883800-160884200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:160883800-160884200	Enhancers	Fetal Intestine Large	intestine
14	chr1:160883800-160884400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:160883800-160884600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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