Variant report

Variant	rs815300
Chromosome Location	chr1:76159709-76159710
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	chr1:76153507..76155716-chr1:76158535..76161147,2	K562	blood:
4	chr1:76139328..76142229-chr1:76158809..76161190,2	K562	blood:
5	chr1:76157340..76160559-chr1:76189001..76191132,3	K562	blood:
6	chr1:76158932..76160525-chr1:76160690..76162510,2	K562	blood:

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

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1068884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093007	1.00[EUR][1000 genomes]
rs1093010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11161785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11161801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146585	1.00[EUR][1000 genomes]
rs1146586	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146589	1.00[EUR][1000 genomes]
rs1146595	1.00[EUR][1000 genomes]
rs1146596	1.00[EUR][1000 genomes]
rs1146597	1.00[EUR][1000 genomes]
rs1146599	1.00[EUR][1000 genomes]
rs1146600	1.00[EUR][1000 genomes]
rs1146601	1.00[EUR][1000 genomes]
rs1146604	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1250879	1.00[EUR][1000 genomes]
rs1251066	1.00[EUR][1000 genomes]
rs1251074	1.00[EUR][1000 genomes]
rs1251271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1591119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1694408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1694423	1.00[EUR][1000 genomes]
rs1759276	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1770514	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211714	1.00[EUR][1000 genomes]
rs211720	1.00[EUR][1000 genomes]
rs211734	1.00[EUR][1000 genomes]
rs211735	1.00[EUR][1000 genomes]
rs211738	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2347963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3119821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs381183	1.00[EUR][1000 genomes]
rs392695	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs445008	1.00[EUR][1000 genomes]
rs699684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699687	1.00[EUR][1000 genomes]
rs699688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699689	1.00[EUR][1000 genomes]
rs699823	1.00[EUR][1000 genomes]
rs699826	1.00[EUR][1000 genomes]
rs72988778	1.00[AMR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs814852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs814854	1.00[EUR][1000 genomes]
rs815302	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9437227	1.00[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	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76159200-76159800	Flanking Active TSS	K562	blood
2	chr1:76159600-76160000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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