Variant report

Variant	rs56284247
Chromosome Location	chr2:31265588-31265589
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	chr2:31258340..31261335-chr2:31263112..31266010,2	K562	blood:
2	chr2:31265375..31268101-chr2:31269640..31272936,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000216093	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10164479	0.83[ASN][1000 genomes]
rs10166921	0.84[ASN][1000 genomes]
rs10174368	0.83[ASN][1000 genomes]
rs10192472	0.90[ASN][1000 genomes]
rs10197865	0.82[ASN][1000 genomes]
rs10209881	0.82[ASN][1000 genomes]
rs10210092	0.82[ASN][1000 genomes]
rs10210124	0.89[ASN][1000 genomes]
rs10210300	0.83[ASN][1000 genomes]
rs10865086	0.85[ASN][1000 genomes]
rs12473730	0.82[ASN][1000 genomes]
rs12712300	0.82[ASN][1000 genomes]
rs1862964	0.85[ASN][1000 genomes]
rs1862965	0.85[ASN][1000 genomes]
rs1862966	0.84[ASN][1000 genomes]
rs1862967	0.84[ASN][1000 genomes]
rs1862968	0.84[ASN][1000 genomes]
rs2113487	0.85[ASN][1000 genomes]
rs2113488	0.85[ASN][1000 genomes]
rs2161835	0.90[ASN][1000 genomes]
rs2194454	0.83[ASN][1000 genomes]
rs2194456	0.83[ASN][1000 genomes]
rs2365191	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4952028	0.86[ASN][1000 genomes]
rs4952030	0.84[ASN][1000 genomes]
rs4952031	0.86[ASN][1000 genomes]
rs4952032	0.89[ASN][1000 genomes]
rs4952033	0.97[ASN][1000 genomes]
rs4952038	0.92[ASN][1000 genomes]
rs5009910	0.83[ASN][1000 genomes]
rs62140629	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543595	0.80[ASN][1000 genomes]
rs6708989	0.83[ASN][1000 genomes]
rs6752071	0.82[ASN][1000 genomes]
rs6752303	0.83[ASN][1000 genomes]
rs6752662	0.87[ASN][1000 genomes]
rs7558425	0.83[ASN][1000 genomes]
rs7565923	0.92[ASN][1000 genomes]
rs7582401	0.85[ASN][1000 genomes]
rs7592553	0.92[ASN][1000 genomes]
rs7605643	0.85[ASN][1000 genomes]
rs7608731	0.83[ASN][1000 genomes]
rs9308914	0.92[ASN][1000 genomes]
rs9679162	0.83[ASN][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	nsv948552	chr2:31118599-31595424	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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31251400-31270000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:31260200-31265600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:31262000-31272200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:31264400-31266000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:31264600-31265800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:31264600-31265800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:31264800-31265600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:31265200-31265600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:31265400-31266000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:31265400-31266000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:31265400-31266000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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