Variant report

Variant	rs696678
Chromosome Location	chr1:76158127-76158128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76157193..76160004-chr1:76260955..76264534,3	K562	blood:
2	chr1:76158085..76160004-chr1:76262153..76264534,2	K562	blood:
3	chr1:76156186..76158840-chr1:76189632..76191650,2	K562	blood:
4	chr1:76157340..76160559-chr1:76189001..76191132,3	K562	blood:

Variant related genes	Relation type
ENSG00000178193	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000057468	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10082036	0.81[AMR][1000 genomes]
rs10082037	0.81[AMR][1000 genomes]
rs10082054	0.81[AMR][1000 genomes]
rs10157365	0.81[AMR][1000 genomes]
rs10157727	0.81[AMR][1000 genomes]
rs1093007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1146585	0.91[AMR][1000 genomes]
rs1146589	0.91[AMR][1000 genomes]
rs1146595	0.82[AMR][1000 genomes]
rs1146596	0.82[AMR][1000 genomes]
rs1146597	0.82[AMR][1000 genomes]
rs1146599	0.82[AMR][1000 genomes]
rs1146600	0.82[AMR][1000 genomes]
rs12059588	0.81[AMR][1000 genomes]
rs12079369	0.81[AMR][1000 genomes]
rs12096022	0.81[AMR][1000 genomes]
rs1250879	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1251066	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1251074	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1251076	0.83[AFR][1000 genomes]
rs1694423	0.91[AMR][1000 genomes]
rs1746747	0.91[AMR][1000 genomes]
rs1759274	0.91[AMR][1000 genomes]
rs1759275	0.91[AMR][1000 genomes]
rs211714	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs211720	0.85[AFR][1000 genomes]
rs381183	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs445008	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699678	0.91[AMR][1000 genomes]
rs699687	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699689	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs699823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699826	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs814854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9437227	0.89[AFR][1000 genomes];1.00[AMR][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	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76157400-76158400	Weak transcription	K562	blood

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