Variant report

Variant	rs62086125
Chromosome Location	chr18:9486512-9486513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9483649..9485920-chr18:9485959..9488883,2	K562	blood:
2	chr18:9476151..9478353-chr18:9485460..9487930,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs16955192	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28778582	0.96[EUR][1000 genomes]
rs3322	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62086074	1.00[AFR][1000 genomes]
rs62086078	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62086079	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086080	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62086098	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086099	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62086100	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086101	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086104	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086106	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62086107	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086109	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086112	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086113	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62086116	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62086122	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086123	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086126	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62086148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086150	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086153	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62087361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087366	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087369	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087373	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087379	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087397	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087408	0.97[EUR][1000 genomes]
rs62087409	0.97[EUR][1000 genomes]
rs62087410	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62087413	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7227801	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9949213	0.96[EUR][1000 genomes]
rs9952325	0.96[EUR][1000 genomes]
rs9955578	0.96[EUR][1000 genomes]
rs9957720	0.96[EUR][1000 genomes]

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
rs62086125	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9476800-9494000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr18:9476800-9496000	Weak transcription	Stomach Mucosa	stomach
3	chr18:9477000-9489800	Weak transcription	HUVEC	blood vessel
4	chr18:9477000-9514000	Weak transcription	NH-A	brain
5	chr18:9477200-9513800	Weak transcription	HSMM	muscle
6	chr18:9477400-9492400	Weak transcription	A549	lung
7	chr18:9477400-9493600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:9477600-9488000	Weak transcription	HepG2	liver
9	chr18:9477600-9491000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:9477600-9494400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:9477800-9488600	Weak transcription	Fetal Lung	lung
12	chr18:9477800-9494800	Weak transcription	HMEC	breast
13	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
14	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
18	chr18:9479000-9494000	Weak transcription	Spleen	Spleen
19	chr18:9479000-9496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
23	chr18:9479000-9533600	Weak transcription	Gastric	stomach
24	chr18:9479200-9492000	Weak transcription	NHEK	skin
25	chr18:9479400-9487000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:9479400-9494000	Weak transcription	Ovary	ovary
27	chr18:9479400-9494600	Weak transcription	Thymus	Thymus
28	chr18:9479600-9487400	Weak transcription	Fetal Muscle Leg	muscle
29	chr18:9480200-9490600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:9480200-9513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:9480600-9487000	Weak transcription	Fetal Intestine Small	intestine
32	chr18:9481400-9494200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr18:9481600-9494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9482800-9492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:9482800-9495000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:9483000-9493800	Weak transcription	Psoas Muscle	Psoas
37	chr18:9483000-9494400	Weak transcription	Right Ventricle	heart
38	chr18:9483000-9513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:9483200-9494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:9483200-9495000	Weak transcription	Primary T cells from cord blood	blood
41	chr18:9483400-9498000	Weak transcription	Dnd41	blood
42	chr18:9484000-9487200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:9484000-9494800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:9484200-9488800	Weak transcription	Primary B cells from cord blood	blood
45	chr18:9484400-9487000	Weak transcription	Fetal Intestine Large	intestine
46	chr18:9484400-9489400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr18:9484400-9493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:9485000-9494200	Weak transcription	K562	blood
49	chr18:9485200-9488000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr18:9485200-9492400	Weak transcription	Primary T cells fromperipheralblood	blood

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