Variant report

Variant	rs72730970
Chromosome Location	chr1:192091661-192091662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10921073	0.91[ASN][1000 genomes]
rs10921074	0.91[ASN][1000 genomes]
rs12062560	0.91[ASN][1000 genomes]
rs12138456	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12140526	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12567153	0.86[ASN][1000 genomes]
rs12568555	0.84[ASN][1000 genomes]
rs17412744	0.91[ASN][1000 genomes]
rs17412793	0.91[ASN][1000 genomes]
rs17521629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730930	0.86[ASN][1000 genomes]
rs72730971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544805	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7548356	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7556178	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007060	chr1:191577303-192141825	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv430047	chr1:191811587-192203678	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv548648	chr1:192001465-192096277	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3335398	chr1:192090449-192092257	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3320995	chr1:192090736-192092186	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv3342689	chr1:192090759-192092137	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3320994	chr1:192090826-192092079	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv3320997	chr1:192090826-192092079	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192090600-192094200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:192091400-192091800	Enhancers	HUVEC	blood vessel
3	chr1:192091600-192092400	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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