Variant report

Variant	rs4752978
Chromosome Location	chr11:47324862-47324863
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	chr11:47323261..47325715-chr11:47330932..47332713,2	K562	blood:
2	chr11:47324175..47326625-chr11:47328924..47330574,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1051006	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769253	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10769254	0.85[EUR][1000 genomes]
rs10769255	0.94[EUR][1000 genomes]
rs10838685	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838686	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10838687	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10838689	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039148	0.80[EUR][1000 genomes]
rs11039155	0.88[EUR][1000 genomes]
rs11039189	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11493249	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11530166	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12222581	0.84[AMR][1000 genomes]
rs12574081	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1449626	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254240	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279238	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2290146	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2290148	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3729802	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3729804	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3729805	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758670	0.80[EUR][1000 genomes]
rs4752977	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752979	0.92[AMR][1000 genomes]
rs4752983	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58023804	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59567949	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6485751	0.92[AMR][1000 genomes]
rs7118396	0.80[EUR][1000 genomes]
rs7124958	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs753992	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs753993	0.86[AMR][1000 genomes]
rs7928073	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats 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 miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4752978	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs4752978	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47295200-47326800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:47295600-47338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:47295800-47340600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr11:47296000-47353600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:47296200-47327000	Strong transcription	Adipose Nuclei	Adipose
11	chr11:47296200-47340400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:47300000-47341200	Strong transcription	Placenta	Placenta
13	chr11:47303200-47340600	Strong transcription	Hela-S3	cervix
14	chr11:47311200-47326400	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:47311800-47348800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:47316200-47328200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:47317200-47325800	Weak transcription	Pancreas	Pancrea
18	chr11:47317600-47325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:47317600-47326400	Weak transcription	Gastric	stomach
20	chr11:47317600-47326600	Weak transcription	Esophagus	oesophagus
21	chr11:47317800-47327000	Weak transcription	HMEC	breast
22	chr11:47318000-47329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:47318600-47326400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:47318600-47326400	Weak transcription	NHLF	lung
25	chr11:47319600-47325400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:47320000-47328000	Weak transcription	Small Intestine	intestine
27	chr11:47320200-47325400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:47320600-47327200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:47321000-47326800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:47321000-47328600	Strong transcription	Liver	Liver
31	chr11:47321000-47328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:47321400-47326400	Weak transcription	Spleen	Spleen
33	chr11:47321400-47326400	Weak transcription	HUVEC	blood vessel
34	chr11:47321400-47326800	Weak transcription	Aorta	Aorta
35	chr11:47321400-47330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:47321600-47326200	Weak transcription	Left Ventricle	heart
37	chr11:47321600-47326400	Weak transcription	NHEK	skin
38	chr11:47322000-47325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:47322400-47326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:47322400-47326200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:47322400-47326800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:47322400-47341000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:47322800-47325200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr11:47322800-47325200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr11:47322800-47325400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr11:47322800-47325800	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr11:47322800-47327800	Strong transcription	A549	lung
48	chr11:47323000-47325400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:47323000-47326400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:47323000-47332000	Strong transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links