Variant report

Variant	rs500300
Chromosome Location	chr18:12422889-12422890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12422115..12425082-chr18:12427051..12428777,2	K562	blood:
2	chr18:12422525..12425509-chr18:12660961..12663016,2	MCF-7	breast:
3	chr18:12396027..12396913-chr18:12422599..12423644,3	MCF-7	breast:
4	chr18:12421209..12423248-chr18:12437108..12438890,2	MCF-7	breast:
5	chr18:12393173..12395442-chr18:12422638..12423834,17	MCF-7	breast:
6	chr18:12422648..12423634-chr18:12659546..12660559,6	MCF-7	breast:
7	chr18:12395766..12397047-chr18:12422358..12424257,19	MCF-7	breast:
8	chr18:12393796..12395269-chr18:12422174..12423544,7	MCF-7	breast:
9	chr18:12391302..12392306-chr18:12422603..12423519,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267199	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1652670	0.81[EUR][1000 genomes]
rs1785326	0.81[AMR][1000 genomes]
rs3906620	0.84[EUR][1000 genomes]
rs4483914	0.86[EUR][1000 genomes]
rs503307	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs529538	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs556734	0.84[CEU][hapmap]
rs573390	0.88[CEU][hapmap]
rs8088106	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv909404	chr18:12409955-12438402	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv9610	chr18:12417586-12424527	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv519557	chr18:12417905-12431506	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs500300	C18orf1	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
4	chr18:12420400-12426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:12420600-12423000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:12420600-12423600	Weak transcription	Hela-S3	cervix
7	chr18:12420600-12424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:12420600-12426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:12420600-12426600	Weak transcription	HSMM	muscle
10	chr18:12420600-12426600	Weak transcription	HSMMtube	muscle
11	chr18:12420600-12426600	Weak transcription	HUVEC	blood vessel
12	chr18:12420600-12426600	Weak transcription	NHEK	skin
13	chr18:12420600-12426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:12420600-12427000	Weak transcription	Fetal Lung	lung
15	chr18:12420600-12427200	Weak transcription	NHDF-Ad	bronchial
16	chr18:12420600-12427800	Weak transcription	HMEC	breast
17	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
18	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart
19	chr18:12420600-12432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:12420600-12433600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr18:12420800-12427000	Weak transcription	Aorta	Aorta
24	chr18:12421000-12423800	Weak transcription	Right Atrium	heart
25	chr18:12421000-12427200	Weak transcription	Lung	lung
26	chr18:12421200-12423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:12421200-12426600	Weak transcription	Ovary	ovary
28	chr18:12421200-12426800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr18:12421200-12429600	Weak transcription	Gastric	stomach
30	chr18:12421200-12429600	Weak transcription	Spleen	Spleen
31	chr18:12421200-12432400	Weak transcription	Esophagus	oesophagus
32	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
35	chr18:12421400-12423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:12421400-12423000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:12421400-12423000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:12421400-12423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr18:12421400-12423000	Weak transcription	NHLF	lung
40	chr18:12421400-12423400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr18:12421400-12426800	Weak transcription	NH-A	brain
42	chr18:12421400-12426800	Weak transcription	Osteobl	bone
43	chr18:12421400-12427000	Weak transcription	Fetal Intestine Large	intestine
44	chr18:12421400-12430800	Weak transcription	Adipose Nuclei	Adipose
45	chr18:12421400-12431200	Weak transcription	Right Ventricle	heart
46	chr18:12421400-12433600	Weak transcription	Placenta	Placenta
47	chr18:12421400-12434600	Weak transcription	Colon Smooth Muscle	Colon
48	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr18:12421600-12423200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr18:12421600-12423400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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