Variant report

Variant	rs12004348
Chromosome Location	chr9:71260553-71260554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10869147	1.00[EUR][1000 genomes]
rs1107109	1.00[EUR][1000 genomes]
rs12001744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12002970	1.00[EUR][1000 genomes]
rs12003362	1.00[EUR][1000 genomes]
rs12340677	1.00[EUR][1000 genomes]
rs17052441	1.00[EUR][1000 genomes]
rs17057092	1.00[MEX][hapmap]
rs17057813	1.00[EUR][1000 genomes]
rs17058128	1.00[EUR][1000 genomes]
rs2065388	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55931741	1.00[EUR][1000 genomes]
rs56017605	1.00[EUR][1000 genomes]
rs56173513	1.00[EUR][1000 genomes]
rs56822677	1.00[EUR][1000 genomes]
rs56885985	1.00[EUR][1000 genomes]
rs57085507	1.00[EUR][1000 genomes]
rs57105289	1.00[EUR][1000 genomes]
rs57442310	1.00[EUR][1000 genomes]
rs58120494	1.00[EUR][1000 genomes]
rs58282494	1.00[EUR][1000 genomes]
rs58870473	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59646983	1.00[EUR][1000 genomes]
rs60175722	1.00[EUR][1000 genomes]
rs60300145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60809779	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6560256	1.00[EUR][1000 genomes]
rs7021335	1.00[EUR][1000 genomes]
rs7048378	1.00[EUR][1000 genomes]
rs73646709	1.00[EUR][1000 genomes]
rs73646710	1.00[EUR][1000 genomes]
rs73646711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646712	1.00[EUR][1000 genomes]
rs73646713	1.00[EUR][1000 genomes]
rs73646714	1.00[EUR][1000 genomes]
rs73646754	1.00[EUR][1000 genomes]
rs73646755	1.00[EUR][1000 genomes]
rs73646756	1.00[EUR][1000 genomes]
rs73646758	1.00[EUR][1000 genomes]
rs7866754	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	nsv482506	chr9:71130848-71280888	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71256400-71262600	Enhancers	Primary B cells from peripheral blood	blood
2	chr9:71259400-71263600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:71259600-71262000	Enhancers	Primary B cells from cord blood	blood
4	chr9:71260400-71260800	Enhancers	GM12878-XiMat	blood
5	chr9:71260400-71261200	Enhancers	K562	blood

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