Variant report

Variant	rs9952992
Chromosome Location	chr18:45498943-45498944
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	chr18:45456840..45458712-chr18:45498629..45500874,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11872548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11875051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11875783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11877848	1.00[AMR][1000 genomes]
rs12968971	1.00[AMR][1000 genomes]
rs12969668	1.00[AMR][1000 genomes]
rs28455633	1.00[AMR][1000 genomes]
rs28465195	1.00[AMR][1000 genomes]
rs28576508	1.00[AMR][1000 genomes]
rs28622478	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28683114	1.00[AMR][1000 genomes]
rs28769310	1.00[AMR][1000 genomes]
rs61238329	1.00[AMR][1000 genomes]
rs6507788	1.00[AMR][1000 genomes]
rs7228619	1.00[AMR][1000 genomes]
rs7233149	1.00[AMR][1000 genomes]
rs7235743	1.00[AMR][1000 genomes]
rs7240327	1.00[AMR][1000 genomes]
rs73953631	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953633	1.00[AMR][1000 genomes]
rs8083042	1.00[AMR][1000 genomes]
rs8084338	1.00[AMR][1000 genomes]
rs8085805	1.00[AMR][1000 genomes]
rs8085921	1.00[AMR][1000 genomes]
rs8087218	1.00[AMR][1000 genomes]
rs8096366	1.00[AMR][1000 genomes]
rs8098860	1.00[AMR][1000 genomes]
rs9947095	1.00[AMR][1000 genomes]
rs9947712	1.00[AMR][1000 genomes]
rs9951883	1.00[AMR][1000 genomes]
rs9952115	1.00[AMR][1000 genomes]
rs9952878	1.00[AMR][1000 genomes]
rs9957678	1.00[AMR][1000 genomes]
rs9958863	1.00[AMR][1000 genomes]
rs9965552	1.00[AMR][1000 genomes]
rs9965717	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45494600-45499000	Weak transcription	Ovary	ovary
2	chr18:45495400-45501600	Weak transcription	Placenta	Placenta
3	chr18:45495800-45499000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr18:45496000-45499600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:45496000-45499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:45496200-45499600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:45496400-45499000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:45497600-45499200	Weak transcription	A549	lung
9	chr18:45497800-45499000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:45498000-45500400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr18:45498000-45502200	Weak transcription	Hela-S3	cervix
12	chr18:45498000-45502800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:45498200-45499200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:45498800-45499200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:45498800-45499200	Enhancers	HepG2	liver
16	chr18:45498800-45500000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:45498800-45500000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:45498800-45500000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr18:45498800-45500000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr18:45498800-45500200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr18:45498800-45502600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr18:45498800-45502600	Enhancers	HUES64 Cell Line	embryonic stem cell

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