Variant report

Variant	rs12576751
Chromosome Location	chr11:47325438-47325439
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	chr11:47323261..47325715-chr11:47330932..47332713,2	K562	blood:
2	chr11:47324175..47326625-chr11:47328924..47330574,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10838694	0.93[AMR][1000 genomes]
rs11039157	0.86[AMR][1000 genomes]
rs11530168	0.89[AMR][1000 genomes]
rs12221497	0.86[AMR][1000 genomes]
rs12573962	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575296	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576461	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576690	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576935	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12578030	0.81[ASN][1000 genomes]
rs17197710	0.81[ASN][1000 genomes]
rs17726390	0.86[AMR][1000 genomes]
rs3736101	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758674	0.86[AMR][1000 genomes]
rs3816724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41301449	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41310332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45489595	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4647713	0.81[ASN][1000 genomes]
rs4647720	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4647735	0.87[EUR][1000 genomes]
rs4647736	0.82[ASN][1000 genomes]
rs4647759	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55764401	0.93[AMR][1000 genomes]
rs56168519	0.89[AMR][1000 genomes]
rs56177220	0.93[AMR][1000 genomes]
rs56825896	0.93[AMR][1000 genomes]
rs61896015	0.86[AMR][1000 genomes]
rs61896047	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61896051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896053	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896054	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897361	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61897855	0.81[ASN][1000 genomes]
rs61897856	0.81[ASN][1000 genomes]
rs61897858	0.81[ASN][1000 genomes]
rs61897859	0.85[EUR][1000 genomes];0.84[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12576751	PACSIN3	cis	Esophagus Mucosa	GTEx

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	chr11:47320000-47328000	Weak transcription	Small Intestine	intestine
26	chr11:47320600-47327200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:47321000-47326800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:47321000-47328600	Strong transcription	Liver	Liver
29	chr11:47321000-47328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:47321400-47326400	Weak transcription	Spleen	Spleen
31	chr11:47321400-47326400	Weak transcription	HUVEC	blood vessel
32	chr11:47321400-47326800	Weak transcription	Aorta	Aorta
33	chr11:47321400-47330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:47321600-47326200	Weak transcription	Left Ventricle	heart
35	chr11:47321600-47326400	Weak transcription	NHEK	skin
36	chr11:47322000-47325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:47322400-47326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:47322400-47326200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:47322400-47326800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:47322400-47341000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:47322800-47325800	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr11:47322800-47327800	Strong transcription	A549	lung
43	chr11:47323000-47326400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:47323000-47332000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:47323400-47341600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:47323400-47352400	Strong transcription	Thymus	Thymus
47	chr11:47323600-47326800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:47323800-47326600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47323800-47326600	Weak transcription	Brain Angular Gyrus	brain
50	chr11:47324000-47326800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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