Variant report

Variant	rs10748002
Chromosome Location	chr12:64548197-64548198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10748001	0.81[CEU][hapmap]
rs10748003	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10784384	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10878110	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10878111	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878114	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10878115	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11175269	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2643665	0.81[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs4763139	0.85[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs699633	0.84[CEU][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs722526	0.81[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs789711	0.81[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs789712	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]

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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10748002	RBMS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64531600-64554400	Weak transcription	NH-A	brain
2	chr12:64537800-64551000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:64538000-64553400	Weak transcription	HMEC	breast
4	chr12:64540000-64553400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:64540000-64553400	Weak transcription	NHEK	skin
6	chr12:64540400-64553400	Weak transcription	Osteobl	bone
7	chr12:64540400-64553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:64540400-64558800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:64541400-64550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:64541400-64554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:64542400-64553800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:64543200-64553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:64543600-64554000	Weak transcription	HSMM	muscle
14	chr12:64543800-64553400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:64544200-64553800	Weak transcription	NHLF	lung
16	chr12:64546600-64553200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:64548000-64548800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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