Variant report

Variant	rs62087458
Chromosome Location	chr18:9574590-9574591
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9573929..9576042-chr18:9682222..9683938,2	K562	blood:
2	chr18:9573228..9575142-chr18:9614750..9617698,2	MCF-7	breast:
3	chr18:9573898..9575587-chr18:9599993..9601990,2	K562	blood:
4	chr18:9566461..9572065-chr18:9572620..9578759,7	K562	blood:
5	chr18:9573383..9575778-chr18:9900229..9903029,2	K562	blood:
6	chr18:9574087..9575900-chr18:9670643..9673512,2	MCF-7	breast:
7	chr18:9574062..9575945-chr18:9705155..9707070,2	MCF-7	breast:
8	chr18:9574087..9576896-chr18:9600490..9602058,2	K562	blood:
9	chr18:9571660..9575689-chr18:9612432..9614168,3	K562	blood:
10	chr18:9552433..9554256-chr18:9573786..9576485,2	K562	blood:
11	chr18:9566461..9572540-chr18:9573224..9580743,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs61746389	0.82[EUR][1000 genomes]
rs61749090	0.82[EUR][1000 genomes]
rs61749091	0.82[EUR][1000 genomes]
rs62087423	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62087424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088866	0.98[EUR][1000 genomes]
rs62088867	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs62088869	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs62088874	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62088882	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62088909	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62088915	0.82[EUR][1000 genomes]
rs62088918	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62087458	RP11-692N5.1	cis	Esophagus Mucosa	GTEx
rs62087458	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr18:9545800-9595200	Strong transcription	Dnd41	blood
4	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
5	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr18:9553200-9575800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:9553800-9574600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:9553800-9582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:9554000-9576000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:9554400-9578400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:9555400-9580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:9557800-9575800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr18:9558000-9580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
16	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr18:9560200-9575200	Weak transcription	Stomach Mucosa	stomach
19	chr18:9560200-9577600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:9560400-9577600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:9561000-9575800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
24	chr18:9563600-9577400	Weak transcription	Spleen	Spleen
25	chr18:9563600-9580600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
27	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr18:9563800-9575400	Weak transcription	Brain Angular Gyrus	brain
29	chr18:9564200-9579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr18:9565000-9575000	Strong transcription	Hela-S3	cervix
31	chr18:9565000-9576000	Weak transcription	Right Atrium	heart
32	chr18:9565000-9579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr18:9565200-9575800	Strong transcription	Osteobl	bone
34	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:9565600-9578000	Strong transcription	Placenta	Placenta
36	chr18:9566200-9575400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:9566200-9575800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr18:9566400-9577600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:9566600-9575800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:9566600-9577000	Strong transcription	HMEC	breast
41	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:9566800-9594600	Strong transcription	HSMM	muscle
43	chr18:9567000-9575200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:9567000-9576400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr18:9567200-9577800	Strong transcription	NHEK	skin
46	chr18:9568600-9587600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr18:9569200-9578200	Weak transcription	Gastric	stomach
48	chr18:9569800-9576200	Strong transcription	Fetal Thymus	thymus
49	chr18:9569800-9582400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr18:9570400-9594400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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