Variant report

Variant	rs12457094
Chromosome Location	chr18:9482551-9482552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9481576..9484213-chr18:9511203..9515144,3	K562	blood:
2	chr18:9474434..9478546-chr18:9481264..9484855,5	MCF-7	breast:
3	chr18:9480776..9482836-chr18:9514325..9515970,2	MCF-7	breast:
4	chr18:9475346..9479784-chr18:9480554..9484276,7	K562	blood:

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12162219	0.88[ASN][1000 genomes]
rs1275669	0.88[ASN][1000 genomes]
rs1813100	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2864487	0.81[CEU][hapmap]
rs328999	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs329014	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4325638	0.81[CEU][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking 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	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12457094	C18orf1	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9476600-9484200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:9476800-9494000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:9476800-9496000	Weak transcription	Stomach Mucosa	stomach
4	chr18:9477000-9482800	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:9477000-9483600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:9477000-9485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:9477000-9486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:9477000-9489800	Weak transcription	HUVEC	blood vessel
9	chr18:9477000-9514000	Weak transcription	NH-A	brain
10	chr18:9477200-9484200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr18:9477200-9513800	Weak transcription	HSMM	muscle
12	chr18:9477400-9485000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr18:9477400-9492400	Weak transcription	A549	lung
14	chr18:9477400-9493600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:9477600-9482800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:9477600-9484000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:9477600-9484600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr18:9477600-9485000	Weak transcription	Liver	Liver
19	chr18:9477600-9485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:9477600-9488000	Weak transcription	HepG2	liver
21	chr18:9477600-9491000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:9477600-9494400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr18:9477800-9482600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:9477800-9484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr18:9477800-9488600	Weak transcription	Fetal Lung	lung
26	chr18:9477800-9494800	Weak transcription	HMEC	breast
27	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
28	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr18:9478000-9482600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:9478000-9482800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:9478000-9484800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:9478000-9485000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
36	chr18:9478200-9483400	Strong transcription	Dnd41	blood
37	chr18:9478400-9483600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:9478800-9483400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr18:9478800-9484000	Weak transcription	Colonic Mucosa	Colon
40	chr18:9479000-9482800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:9479000-9482800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:9479000-9482800	Weak transcription	Esophagus	oesophagus
43	chr18:9479000-9485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:9479000-9494000	Weak transcription	Spleen	Spleen
45	chr18:9479000-9496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
49	chr18:9479000-9533600	Weak transcription	Gastric	stomach
50	chr18:9479200-9492000	Weak transcription	NHEK	skin

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