Variant report

Variant	rs4756151
Chromosome Location	chr11:34495358-34495359
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1000768	0.80[ASN][1000 genomes]
rs10488737	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12421999	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16925614	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16925662	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16925668	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16925673	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16925678	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2076556	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs208680	0.81[ASN][1000 genomes]
rs208681	0.81[ASN][1000 genomes]
rs208682	0.81[ASN][1000 genomes]
rs208683	0.81[ASN][1000 genomes]
rs2231819	0.86[EUR][1000 genomes]
rs2300182	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3758735	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3758736	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3758737	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3758738	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4755374	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4756146	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4756155	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4756156	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55633825	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55665450	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55941777	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56291727	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs564250	0.82[ASN][1000 genomes]
rs7102889	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7104121	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7104394	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7106485	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7109462	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7109778	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7115064	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7126085	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7126243	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7130331	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7130345	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72923163	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72924903	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72924928	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72927347	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72927368	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72927369	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7395059	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7928866	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7935626	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7938373	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756151	CAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34470800-34495600	Strong transcription	Stomach Smooth Muscle	stomach
2	chr11:34471400-34496400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:34471600-34496800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr11:34474000-34496800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:34483400-34501600	Weak transcription	HMEC	breast
6	chr11:34487800-34496600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:34487800-34496600	Strong transcription	Hela-S3	cervix
8	chr11:34487800-34497000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:34488000-34496400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:34489200-34495600	Strong transcription	Primary B cells from cord blood	blood
11	chr11:34489400-34496400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:34489400-34496600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:34489400-34496800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:34489600-34496400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:34489600-34496800	Strong transcription	Adipose Nuclei	Adipose
16	chr11:34489800-34496000	Strong transcription	Fetal Stomach	stomach
17	chr11:34489800-34496000	Strong transcription	Left Ventricle	heart
18	chr11:34490000-34495600	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:34490000-34495600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:34490000-34496400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:34490200-34497000	Strong transcription	Primary T cells from cord blood	blood
22	chr11:34491000-34497200	Weak transcription	HUVEC	blood vessel
23	chr11:34491000-34501800	Weak transcription	Psoas Muscle	Psoas
24	chr11:34491200-34496000	Weak transcription	NHEK	skin
25	chr11:34491200-34496600	Weak transcription	Fetal Heart	heart
26	chr11:34491200-34497000	Weak transcription	A549	lung
27	chr11:34492000-34498400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:34492400-34495600	Genic enhancers	Liver	Liver
29	chr11:34492600-34496200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:34492800-34496600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:34493000-34495800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:34493000-34497800	Weak transcription	Small Intestine	intestine
33	chr11:34493000-34498200	Weak transcription	Esophagus	oesophagus
34	chr11:34493200-34496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:34493200-34497800	Weak transcription	Dnd41	blood
36	chr11:34493200-34497800	Weak transcription	NHLF	lung
37	chr11:34493200-34498000	Weak transcription	Right Ventricle	heart
38	chr11:34493400-34497200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:34493600-34496600	Weak transcription	Colonic Mucosa	Colon
40	chr11:34493800-34495600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:34493800-34496600	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:34494000-34496600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:34494000-34498000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:34494000-34498000	Weak transcription	NHDF-Ad	bronchial
45	chr11:34494000-34498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:34494000-34498400	Weak transcription	Osteobl	bone
47	chr11:34494000-34499400	Weak transcription	HepG2	liver
48	chr11:34494000-34501800	Weak transcription	HSMM	muscle
49	chr11:34494200-34495800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:34494200-34496400	Weak transcription	NH-A	brain

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