Variant report

Variant	rs699823
Chromosome Location	chr1:76156986-76156987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76156186..76158840-chr1:76189632..76191650,2	K562	blood:

Variant related genes	Relation type
ENSG00000117054	Chromatin interaction
ENSG00000178193	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

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]
rs1068884	1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs1093007	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093010	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144330	1.00[EUR][1000 genomes]
rs1144332	1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	1.00[EUR][1000 genomes]
rs1146576	1.00[EUR][1000 genomes]
rs1146578	1.00[EUR][1000 genomes]
rs1146585	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146586	1.00[EUR][1000 genomes]
rs1146589	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146595	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146596	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146597	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146599	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146600	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146601	1.00[EUR][1000 genomes]
rs1146604	1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	1.00[EUR][1000 genomes]
rs1146640	1.00[EUR][1000 genomes]
rs12059588	0.81[AMR][1000 genomes]
rs12070736	1.00[MEX][hapmap]
rs12079369	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs12091293	1.00[MEX][hapmap]
rs12096022	0.81[AMR][1000 genomes]
rs1250879	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251066	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251074	0.94[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251271	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	1.00[EUR][1000 genomes]
rs1591119	1.00[EUR][1000 genomes]
rs1694408	1.00[EUR][1000 genomes]
rs1694423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1746747	1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs1759274	0.91[AMR][1000 genomes]
rs1759275	0.91[AMR][1000 genomes]
rs1770514	1.00[EUR][1000 genomes]
rs211714	0.94[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211720	0.94[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs211734	1.00[EUR][1000 genomes]
rs211735	1.00[EUR][1000 genomes]
rs211738	1.00[EUR][1000 genomes]
rs211739	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs3119821	1.00[EUR][1000 genomes]
rs381183	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392695	1.00[EUR][1000 genomes]
rs445008	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696678	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699678	0.91[AMR][1000 genomes]
rs699684	1.00[EUR][1000 genomes]
rs699685	1.00[EUR][1000 genomes]
rs699686	1.00[EUR][1000 genomes]
rs699687	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699688	1.00[EUR][1000 genomes]
rs699689	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699826	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	1.00[EUR][1000 genomes]
rs814852	1.00[EUR][1000 genomes]
rs814854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815300	1.00[EUR][1000 genomes]
rs815302	1.00[EUR][1000 genomes]
rs815312	1.00[EUR][1000 genomes]
rs9437227	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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	chr1:76156200-76157400	Enhancers	K562	blood

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