Variant report

Variant	rs62143299
Chromosome Location	chr2:35695609-35695610
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:35695463-35695624	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000229013	TF binding region
RNU6-1117P	TF binding region
MIR548AD	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10495840	0.80[AMR][1000 genomes]
rs11124443	0.80[AMR][1000 genomes]
rs11124444	0.80[AMR][1000 genomes]
rs11124445	0.80[AMR][1000 genomes]
rs11689864	0.84[AMR][1000 genomes]
rs11692039	0.80[AMR][1000 genomes]
rs12185698	0.80[AMR][1000 genomes]
rs12464263	0.80[AMR][1000 genomes]
rs17327905	0.80[AMR][1000 genomes]
rs17399995	0.80[AMR][1000 genomes]
rs17469349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62142030	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62143281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62143282	0.80[AMR][1000 genomes]
rs62143283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62143295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62143296	0.80[AMR][1000 genomes]
rs62143297	0.80[AMR][1000 genomes]
rs62143298	0.80[AMR][1000 genomes]
rs62143301	0.80[AMR][1000 genomes]
rs62143302	0.80[AMR][1000 genomes]
rs62143303	0.80[AMR][1000 genomes]
rs62143561	0.80[AMR][1000 genomes]
rs62143562	0.80[AMR][1000 genomes]
rs62146658	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62148569	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010722	chr2:35072575-35950219	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv519522	chr2:35425529-35861883	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008651	chr2:35469467-35896486	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv999139	chr2:35483033-35860024	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv535636	chr2:35483033-35860024	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873848	chr2:35641532-35973963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv581402	chr2:35670916-35702533	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1014577	chr2:35672382-35714924	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
9	nsv873849	chr2:35684885-35717239	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region miRNA	3 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	chr2:35693800-35701200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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