Variant report

Variant	rs11831877
Chromosome Location	chr12:49989603-49989604
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	chr12:49989096..49991306-chr12:49994461..49996407,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11832727	0.94[AFR][1000 genomes]
rs11837399	0.94[AFR][1000 genomes]
rs11837408	0.94[AFR][1000 genomes]
rs11837637	0.91[AFR][1000 genomes]
rs3861577	0.81[AFR][1000 genomes]
rs57489906	0.81[AFR][1000 genomes]
rs58072420	0.88[AFR][1000 genomes]
rs59576871	0.86[AFR][1000 genomes]
rs59597892	0.94[AFR][1000 genomes]
rs59957222	0.91[AFR][1000 genomes]
rs60117004	1.00[AFR][1000 genomes]
rs7131756	1.00[AFR][1000 genomes]
rs7134329	0.94[AFR][1000 genomes]
rs7307183	0.94[AFR][1000 genomes]
rs7310069	0.81[AFR][1000 genomes]
rs7312037	1.00[AFR][1000 genomes]
rs7313183	1.00[AFR][1000 genomes]
rs7313590	1.00[AFR][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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49963000-50003200	Weak transcription	Aorta	Aorta
2	chr12:49976800-49994000	Weak transcription	Liver	Liver
3	chr12:49977600-49996200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:49978800-49994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:49979600-50002600	Weak transcription	HepG2	liver
6	chr12:49979800-49992000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:49979800-49995600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:49979800-49998800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:49980400-50000200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:49981000-49994000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:49982200-49991800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:49982200-49993600	Weak transcription	Brain Germinal Matrix	brain
13	chr12:49982200-49993800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:49982600-49993200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:49982600-50015400	Weak transcription	Pancreas	Pancrea
16	chr12:49982800-49990200	Weak transcription	Fetal Heart	heart
17	chr12:49982800-49994000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:49982800-49996000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:49983000-49991800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:49983000-49993600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:49983000-49996000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:49983200-49991600	Weak transcription	A549	lung
23	chr12:49983200-49992400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:49983200-49993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:49983200-49993600	Weak transcription	NHLF	lung
26	chr12:49983200-49994000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:49983200-49994000	Weak transcription	Adipose Nuclei	Adipose
28	chr12:49983200-49994400	Weak transcription	Right Ventricle	heart
29	chr12:49983200-49995000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:49983200-49999400	Weak transcription	HSMMtube	muscle
31	chr12:49983200-50002800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:49983400-49992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:49983400-49994800	Weak transcription	HSMM	muscle
34	chr12:49983400-50002800	Weak transcription	NHEK	skin
35	chr12:49985000-49994800	Weak transcription	Ovary	ovary
36	chr12:49985200-49992000	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:49985200-49992000	Weak transcription	Fetal Stomach	stomach
38	chr12:49985200-49992600	Weak transcription	GM12878-XiMat	blood
39	chr12:49985200-49993600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:49985200-49998600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:49985200-49998600	Weak transcription	Placenta	Placenta
42	chr12:49985200-50003000	Weak transcription	Lung	lung
43	chr12:49985400-49993000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:49985400-49993800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:49985400-49996200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:49985400-49997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:49985400-49998000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:49985600-49990000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:49985600-49992000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:49985600-49993200	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links