Variant report

Variant	rs12630350
Chromosome Location	chr3:132984460-132984461
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:132983643..132985958-chr3:132988828..132991292,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10460836	0.82[CHB][hapmap]
rs1109858	0.84[MEX][hapmap]
rs1197282	0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1197283	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1197285	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1201674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1209643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12489235	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12495802	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12633430	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12637523	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12639218	0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1513364	1.00[YRI][hapmap]
rs1513366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16840105	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16840179	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1708355	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1708357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1708367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1708368	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1708370	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1795097	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1992994	0.87[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2060639	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2670182	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4130893	0.88[ASN][1000 genomes]
rs4854576	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4854582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4854704	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4854708	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55686499	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55719274	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56269716	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56325413	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59171035	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59885161	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6439400	0.86[JPT][hapmap]
rs938238	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9968195	0.83[JPT][hapmap]

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	nsv980103	chr3:132975869-132988869	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12630350	ACPP	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132976400-132987000	Weak transcription	Fetal Lung	lung
2	chr3:132977400-132986800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:132981600-132986800	Weak transcription	Fetal Brain Female	brain
4	chr3:132982400-132986800	Weak transcription	Fetal Brain Male	brain
5	chr3:132983800-132984600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:132984000-132994800	Weak transcription	HSMMtube	muscle
7	chr3:132984200-132984600	Enhancers	Psoas Muscle	Psoas

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