Variant report

Variant	rs62087362
Chromosome Location	chr18:9505252-9505253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr18:9505150-9505396	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9472044..9474913-chr18:9504151..9505774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266805	TF binding region
ENSG00000273335	Chromatin interaction

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];0.94[EUR][1000 genomes]
rs28778582	0.99[EUR][1000 genomes]
rs3322	1.00[AMR][1000 genomes];0.94[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];0.82[EUR][1000 genomes]
rs62086080	1.00[AFR][1000 genomes]
rs62086098	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086099	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62086100	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086101	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086104	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086106	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62086107	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086109	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086112	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086113	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62086116	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086122	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086123	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086126	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62086149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62086150	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62086153	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62086157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62087361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087366	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087373	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087379	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087408	1.00[EUR][1000 genomes]
rs62087409	1.00[EUR][1000 genomes]
rs62087410	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087413	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7227801	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9949213	0.99[EUR][1000 genomes]
rs9952325	0.99[EUR][1000 genomes]
rs9955578	0.99[EUR][1000 genomes]
rs9957720	0.99[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
rs62087362	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9477000-9514000	Weak transcription	NH-A	brain
2	chr18:9477200-9513800	Weak transcription	HSMM	muscle
3	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
5	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
7	chr18:9479000-9533600	Weak transcription	Gastric	stomach
8	chr18:9480200-9513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:9483000-9513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:9492600-9514000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr18:9493800-9506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:9495000-9506000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:9495000-9507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr18:9495000-9518000	Weak transcription	Liver	Liver
15	chr18:9495000-9518000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr18:9495200-9506200	Weak transcription	Left Ventricle	heart
17	chr18:9495200-9506200	Weak transcription	Psoas Muscle	Psoas
18	chr18:9495200-9508200	Weak transcription	Ovary	ovary
19	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
21	chr18:9495400-9512800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr18:9495400-9514000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr18:9495400-9524000	Weak transcription	Spleen	Spleen
24	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr18:9495800-9514000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:9495800-9517000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr18:9496000-9513800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr18:9496200-9507200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr18:9496800-9506000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:9496800-9534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr18:9497000-9506000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr18:9497400-9532600	Weak transcription	Colonic Mucosa	Colon
33	chr18:9497600-9517200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr18:9497800-9513800	Weak transcription	NHEK	skin
35	chr18:9498400-9523200	Weak transcription	Esophagus	oesophagus
36	chr18:9499400-9525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:9500400-9506400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:9500600-9506200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
40	chr18:9502000-9514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr18:9502200-9514000	Weak transcription	Dnd41	blood
42	chr18:9502200-9519800	Weak transcription	Brain Angular Gyrus	brain
43	chr18:9503000-9513600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr18:9503000-9517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr18:9503600-9513800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:9503800-9506000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr18:9503800-9506000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr18:9503800-9513000	Weak transcription	Fetal Muscle Leg	muscle
49	chr18:9503800-9513600	Weak transcription	Primary T cells from cord blood	blood
50	chr18:9503800-9514000	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links