Variant report

Variant	rs8000150
Chromosome Location	chr13:51459328-51459329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51452163..51454609-chr13:51458977..51461439,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1041017	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11616586	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11617765	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11843914	0.87[EUR][1000 genomes]
rs17074964	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7318931	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7323313	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7324091	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7335786	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7337118	0.82[EUR][1000 genomes]
rs74080784	0.90[EUR][1000 genomes]
rs7491820	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7992624	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7992845	0.89[AMR][1000 genomes]
rs7993060	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001874	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8002319	0.97[EUR][1000 genomes]
rs9526698	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9526703	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9526706	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9526709	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9526712	0.87[EUR][1000 genomes]
rs9535517	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs9535519	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9535522	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9535537	0.87[EUR][1000 genomes]
rs9591371	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	nsv900077	chr13:51446114-51514831	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv900078	chr13:51454896-51478716	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv983515	chr13:51456419-51463427	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8000150	RNASEH2B	cis	cerebellum	SCAN
rs8000150	SETDB2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51457200-51464600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:51458600-51459400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr13:51458600-51461200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:51458800-51461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:51458800-51463400	Weak transcription	Fetal Thymus	thymus
6	chr13:51459000-51461000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:51459200-51461000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr13:51459200-51461200	Weak transcription	Primary monocytes fromperipheralblood	blood

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