Variant report

Variant	rs423947
Chromosome Location	chr4:167199596-167199597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10027143	0.83[EUR][1000 genomes]
rs13109269	0.85[ASN][1000 genomes]
rs13110262	0.93[ASN][1000 genomes]
rs1350654	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1531338	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1663605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675012	0.94[EUR][1000 genomes]
rs1675016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675017	0.82[ASN][1000 genomes]
rs1675018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675032	0.94[EUR][1000 genomes]
rs1870532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28760893	0.94[EUR][1000 genomes]
rs353077	0.85[EUR][1000 genomes]
rs364832	0.94[EUR][1000 genomes]
rs368067	0.94[EUR][1000 genomes]
rs370093	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs373243	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs373801	0.94[EUR][1000 genomes]
rs382617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs386236	0.94[EUR][1000 genomes]
rs386265	0.94[EUR][1000 genomes]
rs390012	0.94[EUR][1000 genomes]
rs394704	0.94[EUR][1000 genomes]
rs399138	0.94[EUR][1000 genomes]
rs408059	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs410627	0.94[EUR][1000 genomes]
rs410691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs412193	0.94[EUR][1000 genomes]
rs413764	0.89[EUR][1000 genomes]
rs419857	0.94[EUR][1000 genomes]
rs421201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs422650	0.85[EUR][1000 genomes]
rs424343	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs426538	0.94[EUR][1000 genomes]
rs427837	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs431882	0.94[EUR][1000 genomes]
rs434957	0.94[EUR][1000 genomes]
rs435102	0.94[EUR][1000 genomes]
rs443289	0.94[EUR][1000 genomes]
rs443475	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs445070	0.94[EUR][1000 genomes]
rs445668	0.94[EUR][1000 genomes]
rs446918	0.94[EUR][1000 genomes]
rs452467	0.94[EUR][1000 genomes]
rs454256	1.00[ASN][1000 genomes]
rs57142842	0.91[EUR][1000 genomes]
rs57325904	0.91[EUR][1000 genomes]
rs576300	0.94[EUR][1000 genomes]
rs60439658	0.85[EUR][1000 genomes]
rs60664386	0.91[EUR][1000 genomes]
rs6810473	0.91[EUR][1000 genomes]
rs6814145	0.82[EUR][1000 genomes]
rs6816264	0.85[EUR][1000 genomes]
rs6837241	0.94[EUR][1000 genomes]
rs692298	0.94[EUR][1000 genomes]
rs73861233	0.85[EUR][1000 genomes]
rs73861238	0.85[EUR][1000 genomes]
rs73861240	0.85[EUR][1000 genomes]
rs73861252	0.85[EUR][1000 genomes]
rs73864111	0.91[EUR][1000 genomes]
rs7663334	0.85[EUR][1000 genomes]
rs7677325	0.91[EUR][1000 genomes]
rs833486	0.94[EUR][1000 genomes]
rs9992643	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821638	chr4:166837633-167262625	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1034421	chr4:166961339-167893289	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537339	chr4:166961339-167893289	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv881029	chr4:167060016-167284757	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1032009	chr4:167154813-167403235	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv880900	chr4:167155443-167368812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv881390	chr4:167163302-167237947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv881290	chr4:167163302-167284757	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv880804	chr4:167185391-167274823	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv880967	chr4:167185391-167366567	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv881405	chr4:167193885-167628013	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv819551	chr4:167196888-167203619	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167198400-167199600	Enhancers	NH-A	brain
2	chr4:167199200-167199600	Enhancers	Osteobl	bone

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