Variant report

Variant	rs11711914
Chromosome Location	chr3:52276901-52276902
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	chr3:52027463..52030131-chr3:52273399..52277503,3	K562	blood:

Variant related genes	Relation type
ENSG00000162244	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10460962	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10461027	0.91[EUR][1000 genomes]
rs10461028	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11706515	0.88[EUR][1000 genomes]
rs11706541	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11707056	0.94[EUR][1000 genomes]
rs11708581	0.88[EUR][1000 genomes]
rs11708811	0.94[EUR][1000 genomes]
rs11710014	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11711974	0.88[EUR][1000 genomes]
rs11713464	0.89[AMR][1000 genomes]
rs11713914	0.88[EUR][1000 genomes]
rs11714313	0.82[AMR][1000 genomes]
rs11714358	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11715208	0.94[EUR][1000 genomes]
rs11715382	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11715391	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11717028	0.91[EUR][1000 genomes]
rs11717574	0.82[AMR][1000 genomes]
rs11718729	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11719760	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11720365	0.88[EUR][1000 genomes]
rs11721277	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17052051	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17052052	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17052053	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17052054	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1767	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1769	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35976326	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3733063	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3852062	0.82[AMR][1000 genomes]
rs3886875	0.82[EUR][1000 genomes]
rs4082828	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55676974	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55806905	0.88[EUR][1000 genomes]
rs55813842	0.88[EUR][1000 genomes]
rs55847657	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56002041	0.88[EUR][1000 genomes]
rs56322342	0.88[EUR][1000 genomes]
rs56352611	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56899118	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57849650	0.88[EUR][1000 genomes]
rs58531656	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58879205	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60382084	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61644644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6445385	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6783652	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6793317	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6809248	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73072990	0.82[EUR][1000 genomes]
rs73088773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73088783	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73088785	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73088791	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088800	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73091166	0.88[EUR][1000 genomes]
rs73091168	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs746239	0.88[EUR][1000 genomes]
rs7615405	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7628461	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7633687	0.88[EUR][1000 genomes]
rs7638204	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7643913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
4	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
8	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
9	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
10	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
11	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
12	nsv876790	chr3:52261382-52286825	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv876791	chr3:52269491-52286825	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11711914	PPM1M	cis	Artery Tibial	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52274400-52278800	Weak transcription	Fetal Lung	lung
2	chr3:52274400-52279000	Weak transcription	Fetal Heart	heart
3	chr3:52274400-52279400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:52274600-52277600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:52274600-52277600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:52274600-52278000	Weak transcription	Esophagus	oesophagus
7	chr3:52274600-52278200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:52274600-52278400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:52274600-52279000	Weak transcription	Brain Anterior Caudate	brain
10	chr3:52274600-52279000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:52274800-52277200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:52274800-52277200	Weak transcription	Primary B cells from cord blood	blood
13	chr3:52274800-52277800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:52274800-52278000	Weak transcription	Left Ventricle	heart
15	chr3:52274800-52278200	Weak transcription	Colonic Mucosa	Colon
16	chr3:52274800-52278600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:52274800-52278800	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:52274800-52279200	Weak transcription	Liver	Liver
19	chr3:52274800-52279200	Weak transcription	Pancreas	Pancrea
20	chr3:52274800-52279200	Weak transcription	Right Atrium	heart
21	chr3:52275000-52277400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:52275000-52277600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:52275000-52277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:52275000-52277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:52275000-52277600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:52275000-52277600	Weak transcription	Placenta	Placenta
27	chr3:52275000-52277600	Weak transcription	Lung	lung
28	chr3:52275000-52277600	Weak transcription	Spleen	Spleen
29	chr3:52275000-52277600	Weak transcription	HUVEC	blood vessel
30	chr3:52275000-52277800	Weak transcription	NH-A	brain
31	chr3:52275000-52278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:52275000-52278000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:52275000-52278000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:52275000-52278000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:52275000-52278000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr3:52275000-52278000	Weak transcription	Right Ventricle	heart
37	chr3:52275000-52278000	Weak transcription	HSMMtube	muscle
38	chr3:52275000-52278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:52275000-52279000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:52275000-52279200	Weak transcription	Stomach Mucosa	stomach
41	chr3:52275200-52277200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:52275200-52277400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:52275200-52277600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:52275200-52277600	Weak transcription	Hela-S3	cervix
45	chr3:52275200-52277600	Weak transcription	HMEC	breast
46	chr3:52275200-52277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:52275200-52277800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:52275200-52277800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:52275200-52277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:52275200-52277800	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links