Variant report

Variant	rs72931448
Chromosome Location	chr2:177627992-177627993
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	chr2:177627395..177629802-chr2:177630789..177633436,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230552	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1106473	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513884	1.00[ASN][1000 genomes]
rs16864414	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864480	1.00[ASN][1000 genomes]
rs17578186	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635560	1.00[ASN][1000 genomes]
rs4894199	1.00[ASN][1000 genomes]
rs66596127	1.00[ASN][1000 genomes]
rs72931451	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931452	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931457	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931460	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931461	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931463	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931465	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934838	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934842	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934846	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934850	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934853	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934864	1.00[ASN][1000 genomes]
rs72934892	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72936942	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577987	1.00[ASN][1000 genomes]
rs7578081	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177622600-177628600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:177622800-177628600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:177623000-177628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:177623400-177634400	Weak transcription	Right Atrium	heart
5	chr2:177626200-177628200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:177626400-177628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:177626800-177628600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:177626800-177628800	Enhancers	Fetal Heart	heart
9	chr2:177627000-177628400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:177627000-177628600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:177627000-177628600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:177627000-177629000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:177627000-177629200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:177627200-177628400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:177627400-177628800	Enhancers	NHDF-Ad	bronchial
16	chr2:177627800-177628800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:177627800-177629600	Enhancers	Brain Germinal Matrix	brain

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