Variant report

Variant	rs513230
Chromosome Location	chr18:12482120-12482121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12480204..12483601-chr18:12657660..12659275,3	MCF-7	breast:
2	chr18:12481122..12482986-chr18:12486539..12488285,2	K562	blood:
3	chr18:12476285..12479022-chr18:12480958..12482478,2	K562	blood:

Variant related genes	Relation type
ENSG00000215527	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000128789	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1025387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1785334	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1785339	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1785668	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs478139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs507950	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541016	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs544366	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs548598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs556757	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72877231	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72877247	0.97[AMR][1000 genomes];0.86[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	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	esv2756075	chr18:12481377-12548970	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
2	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
5	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
6	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
7	chr18:12472600-12495200	Weak transcription	Colonic Mucosa	Colon
8	chr18:12477000-12482200	Strong transcription	HSMMtube	muscle
9	chr18:12477200-12490800	Weak transcription	K562	blood
10	chr18:12478400-12485400	Weak transcription	Fetal Thymus	thymus
11	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
12	chr18:12478600-12496000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:12478600-12498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
15	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:12478800-12485200	Weak transcription	HUVEC	blood vessel
17	chr18:12478800-12485400	Weak transcription	HMEC	breast
18	chr18:12478800-12485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:12478800-12485600	Weak transcription	NHEK	skin
20	chr18:12478800-12485800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:12478800-12488000	Weak transcription	Left Ventricle	heart
22	chr18:12478800-12490800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:12478800-12491200	Weak transcription	Liver	Liver
24	chr18:12478800-12491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:12478800-12491400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:12478800-12491400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:12478800-12491400	Weak transcription	Brain Anterior Caudate	brain
28	chr18:12478800-12491400	Weak transcription	Fetal Brain Female	brain
29	chr18:12478800-12491400	Weak transcription	Fetal Lung	lung
30	chr18:12478800-12491400	Weak transcription	HepG2	liver
31	chr18:12478800-12491400	Weak transcription	Osteobl	bone
32	chr18:12478800-12491600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr18:12478800-12491600	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:12478800-12491600	Weak transcription	Colon Smooth Muscle	Colon
35	chr18:12478800-12491600	Weak transcription	Esophagus	oesophagus
36	chr18:12478800-12491600	Weak transcription	Fetal Kidney	kidney
37	chr18:12478800-12491600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:12478800-12491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr18:12478800-12491600	Weak transcription	Spleen	Spleen
40	chr18:12478800-12492000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:12478800-12492800	Weak transcription	Fetal Brain Male	brain
42	chr18:12478800-12497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:12478800-12499600	Weak transcription	NHLF	lung
44	chr18:12478800-12504800	Weak transcription	Gastric	stomach
45	chr18:12478800-12505800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr18:12478800-12514200	Weak transcription	NH-A	brain
47	chr18:12478800-12515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr18:12478800-12515800	Weak transcription	Placenta	Placenta
49	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
50	chr18:12479000-12485200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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