Variant report

Variant	rs28778582
Chromosome Location	chr18:9528090-9528091
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	chr18:9522836..9525187-chr18:9526714..9528521,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16955192	0.93[EUR][1000 genomes]
rs3322	0.93[EUR][1000 genomes]
rs62086079	0.81[EUR][1000 genomes]
rs62086098	0.81[EUR][1000 genomes]
rs62086099	0.81[EUR][1000 genomes]
rs62086100	0.81[EUR][1000 genomes]
rs62086101	0.81[EUR][1000 genomes]
rs62086104	0.81[EUR][1000 genomes]
rs62086106	0.81[EUR][1000 genomes]
rs62086107	0.81[EUR][1000 genomes]
rs62086109	0.81[EUR][1000 genomes]
rs62086112	0.83[EUR][1000 genomes]
rs62086113	0.82[EUR][1000 genomes]
rs62086116	0.86[EUR][1000 genomes]
rs62086122	0.93[EUR][1000 genomes]
rs62086123	0.93[EUR][1000 genomes]
rs62086125	0.96[EUR][1000 genomes]
rs62086126	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62086148	0.99[EUR][1000 genomes]
rs62086149	0.99[EUR][1000 genomes]
rs62086150	0.99[EUR][1000 genomes]
rs62086153	0.99[EUR][1000 genomes]
rs62086157	0.99[EUR][1000 genomes]
rs62087360	0.97[EUR][1000 genomes]
rs62087361	0.99[EUR][1000 genomes]
rs62087362	0.99[EUR][1000 genomes]
rs62087366	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62087369	0.99[EUR][1000 genomes]
rs62087373	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62087374	0.99[EUR][1000 genomes]
rs62087376	0.99[EUR][1000 genomes]
rs62087379	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62087397	0.99[EUR][1000 genomes]
rs62087408	0.99[EUR][1000 genomes]
rs62087409	0.99[EUR][1000 genomes]
rs62087410	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62087413	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7227801	0.93[EUR][1000 genomes]
rs9949213	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9955578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9957720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28778582	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
2	chr18:9479000-9533600	Weak transcription	Gastric	stomach
3	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
5	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr18:9496800-9534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:9497400-9532600	Weak transcription	Colonic Mucosa	Colon
8	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
9	chr18:9506800-9532000	Weak transcription	Pancreas	Pancrea
10	chr18:9508000-9531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr18:9508600-9531800	Weak transcription	Small Intestine	intestine
12	chr18:9513200-9534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
14	chr18:9514600-9528800	Weak transcription	NH-A	brain
15	chr18:9514600-9530200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:9517800-9534000	Weak transcription	NHLF	lung
17	chr18:9518200-9528400	Weak transcription	HUVEC	blood vessel
18	chr18:9518200-9533600	Weak transcription	Brain Substantia Nigra	brain
19	chr18:9518800-9534400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr18:9520000-9532000	Weak transcription	Colon Smooth Muscle	Colon
21	chr18:9520400-9534800	Weak transcription	Psoas Muscle	Psoas
22	chr18:9521400-9535000	Strong transcription	Fetal Muscle Leg	muscle
23	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
24	chr18:9521600-9528600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr18:9521600-9528800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
27	chr18:9521800-9528200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:9521800-9528600	Strong transcription	Left Ventricle	heart
29	chr18:9521800-9529000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr18:9521800-9534800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr18:9521800-9540400	Strong transcription	Dnd41	blood
32	chr18:9521800-9540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:9522000-9529200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr18:9522000-9534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:9522000-9538400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr18:9522000-9538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr18:9522200-9530400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:9522200-9536200	Strong transcription	HSMM	muscle
39	chr18:9522200-9539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:9522200-9540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr18:9522400-9528200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr18:9522400-9534800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:9522600-9539200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr18:9522600-9540400	Strong transcription	Fetal Intestine Large	intestine
45	chr18:9522800-9531800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr18:9523400-9535400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:9523600-9529000	Strong transcription	Osteobl	bone
48	chr18:9524000-9530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:9524000-9531800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr18:9524200-9530400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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