Variant report

Variant	rs7053972
Chromosome Location	chr1:171050075-171050076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12402693	1.00[ASN][1000 genomes]
rs12404183	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404218	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16863989	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16863990	1.00[ASN][1000 genomes]
rs28363515	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28745581	0.86[ASN][1000 genomes]
rs28745584	0.86[ASN][1000 genomes]
rs3754489	1.00[ASN][1000 genomes]
rs3754491	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66937021	1.00[ASN][1000 genomes]
rs67806272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67975878	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7051095	0.89[AFR][1000 genomes]
rs7057100	0.85[EUR][1000 genomes]
rs7066402	0.85[EUR][1000 genomes]
rs72637246	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712638	0.95[ASN][1000 genomes]
rs7474070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171047200-171050200	Weak transcription	Fetal Intestine Large	intestine
2	chr1:171050000-171050800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:171050000-171051000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:171050000-171051000	Enhancers	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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