Variant report

Variant	rs815311
Chromosome Location	chr1:76182729-76182730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76171538..76176296-chr1:76182594..76187669,7	K562	blood:
2	chr1:76181545..76183225-chr1:76260845..76263669,2	K562	blood:
3	chr1:76181725..76184610-chr1:76261923..76263669,2	K562	blood:

Variant related genes	Relation type
ENSG00000057468	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10465725	0.82[EUR][1000 genomes]
rs1144329	0.92[EUR][1000 genomes]
rs1146603	0.92[EUR][1000 genomes]
rs1146605	0.92[EUR][1000 genomes]
rs1146606	0.92[EUR][1000 genomes]
rs1146608	0.92[EUR][1000 genomes]
rs1146611	0.92[EUR][1000 genomes]
rs1146612	0.92[EUR][1000 genomes]
rs1146614	0.92[EUR][1000 genomes]
rs1146615	0.92[EUR][1000 genomes]
rs1146618	0.92[EUR][1000 genomes]
rs1146619	0.92[EUR][1000 genomes]
rs1146620	0.92[EUR][1000 genomes]
rs1146622	0.92[EUR][1000 genomes]
rs1146624	0.92[EUR][1000 genomes]
rs1146628	0.92[EUR][1000 genomes]
rs1146629	0.92[EUR][1000 genomes]
rs1146641	0.92[EUR][1000 genomes]
rs12074938	0.82[EUR][1000 genomes]
rs12079065	0.82[EUR][1000 genomes]
rs12079211	0.82[EUR][1000 genomes]
rs12079432	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12081631	0.82[EUR][1000 genomes]
rs12094698	0.92[EUR][1000 genomes]
rs13376397	0.82[EUR][1000 genomes]
rs17097567	0.82[EUR][1000 genomes]
rs55781251	0.91[EUR][1000 genomes]
rs55977041	0.82[EUR][1000 genomes]
rs56322662	0.82[EUR][1000 genomes]
rs56364153	0.91[EUR][1000 genomes]
rs57443433	0.82[EUR][1000 genomes]
rs5745309	0.82[EUR][1000 genomes]
rs5745418	0.82[EUR][1000 genomes]
rs57798497	0.82[EUR][1000 genomes]
rs58125729	0.82[EUR][1000 genomes]
rs59723961	0.82[EUR][1000 genomes]
rs59932454	0.82[EUR][1000 genomes]
rs60219146	0.91[EUR][1000 genomes]
rs61612438	0.82[EUR][1000 genomes]
rs74088996	0.91[EUR][1000 genomes]
rs74088997	0.91[EUR][1000 genomes]
rs74088999	0.91[EUR][1000 genomes]
rs74090705	0.91[EUR][1000 genomes]
rs74090716	0.82[EUR][1000 genomes]
rs74090717	0.82[EUR][1000 genomes]
rs74090720	0.82[EUR][1000 genomes]
rs74090724	0.82[EUR][1000 genomes]
rs74090726	0.82[EUR][1000 genomes]
rs74090729	0.82[EUR][1000 genomes]
rs74090734	0.82[EUR][1000 genomes]
rs74090737	0.82[EUR][1000 genomes]
rs74090744	0.82[EUR][1000 genomes]
rs815310	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970840	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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