Variant report

Variant	rs2470172
Chromosome Location	chr15:51670476-51670477
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	chr15:51666016..51667942-chr15:51669809..51671705,2	K562	blood:
2	chr15:51633816..51636892-chr15:51670128..51672715,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186417	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11070846	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12439026	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12595284	0.81[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17647970	0.82[CEU][hapmap]
rs1808141	0.92[CEU][hapmap]
rs1870048	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445738	0.81[CEU][hapmap]
rs2445779	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs2446427	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2470171	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2470173	0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2470186	0.88[CEU][hapmap];0.94[JPT][hapmap]
rs2470189	1.00[ASW][hapmap];0.92[CEU][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4774588	0.86[JPT][hapmap]
rs4775942	0.81[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7173573	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs8031311	0.82[CEU][hapmap]
rs930921	0.86[CEU][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv904215	chr15:51542193-51673125	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv904216	chr15:51631479-51739808	Bivalent Enhancer Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2470172	SPPL2A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51640800-51676200	Weak transcription	Aorta	Aorta
2	chr15:51660200-51676200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:51663600-51671600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:51664800-51672800	Weak transcription	Right Atrium	heart
5	chr15:51665600-51674200	Enhancers	Brain Hippocampus Middle	brain
6	chr15:51668000-51671000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:51668000-51679000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:51668200-51671200	Weak transcription	Brain Germinal Matrix	brain
9	chr15:51669400-51674800	Weak transcription	Osteobl	bone
10	chr15:51669800-51670600	Enhancers	Brain Substantia Nigra	brain
11	chr15:51669800-51672600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:51669800-51673200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:51670000-51671800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:51670200-51670600	Active TSS	Placenta	Placenta
15	chr15:51670200-51671000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:51670200-51672600	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:51670200-51673200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:51670200-51674400	Enhancers	Brain Angular Gyrus	brain
19	chr15:51670200-51675200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:51670400-51670800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:51670400-51673200	Weak transcription	NHDF-Ad	bronchial
22	chr15:51670400-51674000	Enhancers	Brain Anterior Caudate	brain

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