Variant report

Variant	rs1227120
Chromosome Location	chr2:168361803-168361804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1112983	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11899757	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12105560	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1238298	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12466695	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12478609	0.81[ASN][1000 genomes]
rs12989813	0.80[ASN][1000 genomes]
rs12990145	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12996381	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13032189	0.90[EUR][1000 genomes]
rs1541889	0.93[EUR][1000 genomes]
rs1583217	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1653420	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1653425	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653430	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16853634	0.87[ASN][1000 genomes]
rs16853644	0.87[ASN][1000 genomes]
rs16853648	0.92[EUR][1000 genomes]
rs16853653	0.87[ASN][1000 genomes]
rs16853655	0.87[ASN][1000 genomes]
rs16853681	0.90[ASN][1000 genomes]
rs1730713	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1730725	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1813255	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919854	0.85[EUR][1000 genomes]
rs1919855	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1983514	0.90[EUR][1000 genomes]
rs2052982	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35523753	0.87[EUR][1000 genomes]
rs35580310	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35827395	0.93[EUR][1000 genomes]
rs4667955	0.93[EUR][1000 genomes]
rs59149606	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61416591	0.90[ASN][1000 genomes]
rs6433000	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6710395	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67321550	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67697939	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567362	0.85[EUR][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	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168338200-168366000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:168341600-168365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:168356600-168365200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:168356800-168364400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:168357000-168365400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:168358400-168365400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:168361200-168365400	Weak transcription	HUVEC	blood vessel
8	chr2:168361400-168363200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:168361600-168364200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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