Variant report

Variant	rs12455453
Chromosome Location	chr18:9797214-9797215
allele	A/C/G
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	chr18:9797136-9797735	ECC-1	luminal epithelium:	n/a	n/a
2	REST	chr18:9796934-9797851	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr18:9797204-9797658	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr18:9797180-9797330	NHDF-neo	bronchial:	n/a	n/a
5	POLR2A	chr18:9797190-9797674	H1-neurons	neurons:	n/a	n/a
6	CTCF	chr18:9797140-9797430	HMF	breast:	n/a	n/a
7	POLR2A	chr18:9797133-9797375	Hela-S3	cervix:	n/a	n/a
8	SIN3AK20	chr18:9796953-9797591	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9706539..9708220-chr18:9796995..9799209,2	K562	blood:
2	chr18:9791062..9793462-chr18:9796256..9799208,2	K562	blood:

Variant related genes	Relation type
RAB31	TF binding region
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12454158	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267565	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267566	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2267568	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2867813	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs73940033	0.96[EUR][1000 genomes]
rs73940034	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8092013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9771800-9803800	Weak transcription	Fetal Stomach	stomach
2	chr18:9771800-9807800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:9772000-9797400	Weak transcription	Colon Smooth Muscle	Colon
4	chr18:9773600-9807000	Weak transcription	Lung	lung
5	chr18:9775600-9806400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:9780200-9807000	Weak transcription	Pancreas	Pancrea
7	chr18:9782400-9802600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr18:9782400-9802600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr18:9782400-9803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:9783200-9802600	Weak transcription	NHLF	lung
11	chr18:9783200-9804000	Weak transcription	NHEK	skin
12	chr18:9783400-9797400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:9783400-9802600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:9783400-9808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:9785400-9800000	Weak transcription	Spleen	Spleen
16	chr18:9785800-9802400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:9787800-9797400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr18:9788000-9802800	Weak transcription	NH-A	brain
19	chr18:9790600-9797400	Weak transcription	Ovary	ovary
20	chr18:9791200-9798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:9791600-9802600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:9792200-9798600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:9792600-9802600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:9792800-9802400	Weak transcription	Aorta	Aorta
25	chr18:9792800-9807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:9793200-9802400	Weak transcription	Placenta	Placenta
27	chr18:9793200-9803800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr18:9794000-9798000	Weak transcription	Adipose Nuclei	Adipose
29	chr18:9794000-9802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:9794200-9802400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr18:9794200-9803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:9794600-9802200	Weak transcription	Osteobl	bone
33	chr18:9795200-9797800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr18:9795800-9798000	Weak transcription	Hela-S3	cervix
35	chr18:9795800-9802400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:9796200-9798200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr18:9796200-9799800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr18:9796400-9797800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:9796800-9798400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr18:9797000-9797400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:9797000-9797400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:9797000-9797400	Enhancers	Gastric	stomach
43	chr18:9797000-9797400	Flanking Active TSS	A549	lung
44	chr18:9797000-9797600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:9797000-9797600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr18:9797000-9797600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr18:9797000-9797600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:9797000-9797600	Active TSS	Brain Hippocampus Middle	brain
49	chr18:9797000-9797600	Active TSS	Brain Substantia Nigra	brain
50	chr18:9797000-9797600	Enhancers	HSMM	muscle

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