Variant report

Variant	rs58500351
Chromosome Location	chr18:12453886-12453887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12448427..12450836-chr18:12453121..12454748,2	K562	blood:

Variant related genes	Relation type
ENSG00000267515	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11664219	0.83[AFR][1000 genomes]
rs11664232	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16973057	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16977205	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16977214	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16977227	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1893236	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2040197	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887990	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4566245	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4797687	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4797689	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4797693	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56029848	0.84[AFR][1000 genomes]
rs56723469	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61027502	0.84[AFR][1000 genomes]
rs73403752	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73403754	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73403761	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73403763	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73949246	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:12433200-12464600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:12433400-12458600	Weak transcription	HepG2	liver
4	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
5	chr18:12439400-12468200	Weak transcription	K562	blood
6	chr18:12442000-12459200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:12443200-12457400	Strong transcription	HSMM	muscle
8	chr18:12443600-12454600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:12444000-12460200	Weak transcription	Fetal Intestine Large	intestine
10	chr18:12444000-12467400	Weak transcription	A549	lung
11	chr18:12444200-12463200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:12444400-12458600	Weak transcription	Fetal Heart	heart
13	chr18:12444400-12465800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:12444600-12455800	Weak transcription	Fetal Kidney	kidney
15	chr18:12444600-12457600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:12444600-12459400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:12444600-12477600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:12445000-12454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr18:12445600-12459200	Weak transcription	Fetal Intestine Small	intestine
20	chr18:12445600-12460800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr18:12445800-12459000	Weak transcription	Placenta	Placenta
22	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr18:12446800-12455000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:12447000-12454600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:12447000-12454800	Strong transcription	Fetal Muscle Leg	muscle
26	chr18:12447000-12460800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr18:12447800-12454600	Weak transcription	Brain Substantia Nigra	brain
28	chr18:12447800-12459200	Weak transcription	Fetal Lung	lung
29	chr18:12447800-12461200	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:12448000-12463000	Weak transcription	Psoas Muscle	Psoas
31	chr18:12448200-12454800	Strong transcription	Fetal Stomach	stomach
32	chr18:12448800-12454400	Strong transcription	Liver	Liver
33	chr18:12449600-12455200	Weak transcription	Fetal Brain Male	brain
34	chr18:12449600-12458600	Weak transcription	NHDF-Ad	bronchial
35	chr18:12449600-12459200	Weak transcription	NHLF	lung
36	chr18:12449600-12470600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:12449600-12477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:12449800-12454200	Weak transcription	NHEK	skin
39	chr18:12449800-12459200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr18:12449800-12459400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:12449800-12461000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:12449800-12461000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr18:12449800-12465400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr18:12449800-12466800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr18:12449800-12470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr18:12449800-12477600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr18:12449800-12477600	Weak transcription	Spleen	Spleen
48	chr18:12449800-12477800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr18:12449800-12478000	Weak transcription	Gastric	stomach
50	chr18:12449800-12478000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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