Variant report

Variant	rs17438148
Chromosome Location	chr10:90600427-90600428
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	chr10:90599319..90601374-chr10:90601380..90603688,2	MCF-7	breast:
2	chr10:90599583..90601963-chr10:90608850..90611215,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17446483	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers 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	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv467415	chr10:90478483-90600865	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv551840	chr10:90478483-90600865	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17438148	ACTA2	cis	parietal	SCAN
rs17438148	STAMBPL1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90578000-90607200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:90578600-90611200	Weak transcription	Esophagus	oesophagus
3	chr10:90589000-90608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:90593800-90600800	Weak transcription	Fetal Thymus	thymus
5	chr10:90595600-90600800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr10:90597000-90601000	Weak transcription	GM12878-XiMat	blood
7	chr10:90597600-90601800	Enhancers	Stomach Mucosa	stomach
8	chr10:90598200-90601000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:90598800-90601800	Enhancers	Fetal Intestine Large	intestine
10	chr10:90598800-90608000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:90599000-90601600	Enhancers	Fetal Intestine Small	intestine
12	chr10:90599600-90600600	Weak transcription	Pancreas	Pancrea
13	chr10:90599600-90601200	Enhancers	Duodenum Mucosa	Duodenum
14	chr10:90599600-90605000	Weak transcription	Gastric	stomach
15	chr10:90599800-90601400	Enhancers	NHEK	skin
16	chr10:90600200-90600600	Enhancers	HMEC	breast
17	chr10:90600200-90600600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr10:90600200-90601600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:90600400-90600600	Enhancers	A549	lung
20	chr10:90600400-90600800	Flanking Active TSS	Liver	Liver

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