Variant report

Variant	rs17137978
Chromosome Location	chr5:114894368-114894369
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	chr5:114893635..114896285-chr5:114902455..114905206,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11740361	1.00[EUR][1000 genomes]
rs1427860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17393505	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17393664	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17395548	0.88[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs17395582	0.86[EUR][1000 genomes]
rs17472256	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17472710	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17473484	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17473708	0.84[EUR][1000 genomes]
rs17473792	0.86[EUR][1000 genomes]
rs17474216	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2194114	0.84[EUR][1000 genomes]
rs3776801	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3776802	1.00[EUR][1000 genomes]
rs6863733	1.00[CHD][hapmap]
rs7712026	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17137978	CARD9	trans	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114889400-114895600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:114891200-114895600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:114892400-114895800	Enhancers	HUVEC	blood vessel
4	chr5:114892600-114897200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:114892800-114896200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:114893000-114894600	Enhancers	Stomach Mucosa	stomach
7	chr5:114893000-114894800	Enhancers	Liver	Liver
8	chr5:114893200-114894400	Enhancers	HSMMtube	muscle
9	chr5:114893200-114894600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:114893200-114896000	Enhancers	Osteobl	bone
11	chr5:114893400-114894400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:114893400-114894600	Enhancers	Psoas Muscle	Psoas
13	chr5:114893600-114894400	Enhancers	HepG2	liver
14	chr5:114893600-114894400	Enhancers	NHLF	lung
15	chr5:114893600-114896200	Enhancers	NH-A	brain
16	chr5:114893600-114896600	Enhancers	HSMM	muscle
17	chr5:114893600-114896600	Enhancers	NHDF-Ad	bronchial
18	chr5:114893800-114894400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:114893800-114894400	Enhancers	Brain Hippocampus Middle	brain
20	chr5:114893800-114894600	Enhancers	HMEC	breast
21	chr5:114893800-114895000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:114893800-114895200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:114893800-114897200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:114894000-114894400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:114894000-114894600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:114894000-114894600	Enhancers	NHEK	skin
27	chr5:114894000-114895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:114894000-114897000	Weak transcription	Placenta	Placenta
29	chr5:114894000-114907200	Weak transcription	Pancreas	Pancrea
30	chr5:114894200-114894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:114894200-114895200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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