Variant report

Variant	rs1818788
Chromosome Location	chr3:150319684-150319685
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
2	chr3:150262222..150264859-chr3:150319269..150321349,2	K562	blood:
3	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
4	chr3:150319300..150322608-chr3:150420316..150423261,6	MCF-7	breast:
5	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
6	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
7	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
8	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
9	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244265	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1133494	0.89[ASN][1000 genomes]
rs14434	0.89[ASN][1000 genomes]
rs1915942	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915943	1.00[ASN][1000 genomes]
rs2049229	0.89[ASN][1000 genomes]
rs2090916	0.89[ASN][1000 genomes]
rs2204112	0.88[ASN][1000 genomes]
rs2868945	0.88[EUR][1000 genomes]
rs2868946	0.89[ASN][1000 genomes]
rs2868947	0.89[ASN][1000 genomes]
rs6440683	0.89[ASN][1000 genomes]
rs6790726	0.81[ASN][1000 genomes]
rs7374917	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7628889	0.89[ASN][1000 genomes]
rs7631671	0.89[ASN][1000 genomes]
rs7638500	0.89[ASN][1000 genomes]
rs7642917	0.89[ASN][1000 genomes]
rs9289818	0.89[ASN][1000 genomes]
rs9289821	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954068	0.81[ASN][1000 genomes]
rs9809820	0.98[ASN][1000 genomes]
rs9819287	1.00[ASN][1000 genomes]
rs9836797	0.96[ASN][1000 genomes]
rs9865177	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1818788	EIF2A	cis	lung	GTEx
rs1818788	EIF2A	cis	Thyroid	GTEx
rs1818788	EIF2A	cis	Artery Tibial	GTEx
rs1818788	EIF2A	cis	Esophagus Muscularis	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:150301600-150320200	Weak transcription	Small Intestine	intestine
4	chr3:150302400-150320000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:150303800-150320000	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:150303800-150320000	Weak transcription	Fetal Brain Female	brain
7	chr3:150303800-150320000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:150303800-150320800	Weak transcription	Lung	lung
9	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
10	chr3:150304000-150320000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:150304000-150320000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:150304000-150320000	Weak transcription	Fetal Stomach	stomach
13	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:150304400-150320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:150304400-150320200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:150304400-150320600	Weak transcription	Ovary	ovary
17	chr3:150304800-150320400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:150306200-150320000	Weak transcription	Left Ventricle	heart
19	chr3:150312800-150320000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:150315600-150320000	Enhancers	HMEC	breast
21	chr3:150316400-150319800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:150317200-150320000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:150317200-150320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:150317200-150320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:150317200-150320200	Weak transcription	Right Atrium	heart
26	chr3:150317400-150320200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr3:150317600-150320200	Weak transcription	HSMMtube	muscle
28	chr3:150317800-150320000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:150317800-150320000	Weak transcription	Primary B cells from cord blood	blood
30	chr3:150317800-150320000	Enhancers	Dnd41	blood
31	chr3:150318000-150320000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:150318000-150320000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:150318000-150320000	Weak transcription	Fetal Thymus	thymus
34	chr3:150318200-150320000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:150318200-150320000	Weak transcription	Psoas Muscle	Psoas
36	chr3:150318200-150320200	Enhancers	Primary T cells from cord blood	blood
37	chr3:150318200-150320200	Weak transcription	Right Ventricle	heart
38	chr3:150318400-150320000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:150318400-150320000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:150318400-150320000	Weak transcription	Brain Angular Gyrus	brain
41	chr3:150318400-150320200	Weak transcription	HSMM	muscle
42	chr3:150318600-150320000	Weak transcription	A549	lung
43	chr3:150318600-150320000	Weak transcription	NHLF	lung
44	chr3:150318600-150320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:150318600-150320200	Weak transcription	NH-A	brain
46	chr3:150318600-150320400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:150318600-150320400	Weak transcription	NHDF-Ad	bronchial
48	chr3:150318600-150323600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr3:150318600-150323600	Active TSS	K562	blood
50	chr3:150318800-150320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links