Variant report

Variant	rs12338293
Chromosome Location	chr9:18363474-18363475
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr9:18363237-18363905	SK-N-SH	brain:	n/a	chr9:18363310-18363319
2	GATA3	chr9:18363207-18363868	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr9:18363050-18363823	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr9:18363092-18363964	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr9:18363308-18363850	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000227167	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10511652	1.00[ASN][1000 genomes]
rs10756959	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10810958	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12341057	0.83[ASN][1000 genomes]
rs12350298	0.83[ASN][1000 genomes]
rs1340044	0.85[ASN][1000 genomes]
rs2791442	1.00[ASN][1000 genomes]
rs4961642	0.99[ASN][1000 genomes]
rs7020284	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7024252	0.98[ASN][1000 genomes]
rs7028032	1.00[ASN][1000 genomes]
rs7031026	0.84[ASN][1000 genomes]
rs7047314	0.80[ASN][1000 genomes]
rs7861774	0.81[ASN][1000 genomes]
rs9407897	0.87[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	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv892687	chr9:18303691-18430297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1831194	chr9:18355044-18369216	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18333400-18368200	Weak transcription	Aorta	Aorta
2	chr9:18357400-18364200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:18358000-18364200	Enhancers	NHDF-Ad	bronchial
4	chr9:18358000-18364400	Enhancers	Osteobl	bone
5	chr9:18360000-18364000	Enhancers	Fetal Lung	lung
6	chr9:18361600-18364200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:18361600-18368400	Weak transcription	HUVEC	blood vessel
8	chr9:18362400-18364000	Enhancers	Colon Smooth Muscle	Colon
9	chr9:18362400-18364000	Enhancers	HSMM	muscle
10	chr9:18362400-18364200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:18362400-18364400	Enhancers	Fetal Stomach	stomach
12	chr9:18362600-18363600	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:18362600-18367400	Enhancers	Primary B cells from cord blood	blood
14	chr9:18362800-18363800	Enhancers	NH-A	brain
15	chr9:18362800-18364200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:18362800-18364200	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:18363000-18363600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:18363000-18363800	Enhancers	HSMMtube	muscle
19	chr9:18363000-18364000	Enhancers	Stomach Smooth Muscle	stomach
20	chr9:18363000-18364200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:18363000-18364200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr9:18363000-18364200	Enhancers	NHLF	lung
23	chr9:18363000-18366600	Enhancers	Fetal Heart	heart
24	chr9:18363200-18363800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:18363200-18364000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:18363400-18364000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:18363400-18364000	Enhancers	Fetal Kidney	kidney
28	chr9:18363400-18364000	Weak transcription	Left Ventricle	heart
29	chr9:18363400-18365800	Weak transcription	GM12878-XiMat	blood

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