Variant report

Variant	rs11168927
Chromosome Location	chr12:49617178-49617179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:49616235-49617303	IMR90	lung:	n/a	n/a
2	RCOR1	chr12:49616298-49617704	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
2	chr12:49608287..49610880-chr12:49615814..49620950,5	K562	blood:
3	chr12:49608287..49611416-chr12:49615384..49618103,4	K562	blood:
4	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:

Variant related genes	Relation type
TUBA1C	TF binding region
ENSG00000258017	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10047512	1.00[AMR][1000 genomes]
rs10047588	1.00[AMR][1000 genomes]
rs1109811	1.00[AMR][1000 genomes]
rs11168925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168928	1.00[AMR][1000 genomes]
rs11168931	1.00[AMR][1000 genomes]
rs11168938	1.00[AMR][1000 genomes]
rs11168939	1.00[AMR][1000 genomes]
rs11168940	1.00[AMR][1000 genomes]
rs11168942	1.00[AMR][1000 genomes]
rs12296231	1.00[AMR][1000 genomes]
rs12296536	1.00[AMR][1000 genomes]
rs12297433	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300386	1.00[AMR][1000 genomes]
rs12300998	1.00[AMR][1000 genomes]
rs12304259	1.00[AMR][1000 genomes]
rs12304483	1.00[AMR][1000 genomes]
rs12304746	1.00[AMR][1000 genomes]
rs12309028	1.00[AMR][1000 genomes]
rs12314967	1.00[AMR][1000 genomes]
rs12318666	1.00[AMR][1000 genomes]
rs12322876	1.00[AMR][1000 genomes]
rs28758893	1.00[AMR][1000 genomes]
rs9804936	1.00[AMR][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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49608800-49617800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:49610200-49625800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:49612200-49620200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:49614200-49618400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:49614800-49617200	Weak transcription	Spleen	Spleen
6	chr12:49614800-49618000	Enhancers	Primary B cells from cord blood	blood
7	chr12:49615200-49618600	Enhancers	Fetal Muscle Leg	muscle
8	chr12:49615200-49625600	Weak transcription	Placenta	Placenta
9	chr12:49615800-49617800	Enhancers	HSMM	muscle
10	chr12:49616000-49617200	Enhancers	Colon Smooth Muscle	Colon
11	chr12:49616000-49618400	Enhancers	Fetal Muscle Trunk	muscle
12	chr12:49616200-49617200	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:49616200-49617200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:49616200-49617200	Enhancers	Osteobl	bone
15	chr12:49616200-49617800	Enhancers	NHLF	lung
16	chr12:49616400-49617200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:49616400-49617400	Enhancers	NH-A	brain
18	chr12:49616400-49617600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:49616400-49617800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:49616400-49617800	Enhancers	Brain Angular Gyrus	brain
21	chr12:49616400-49617800	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:49616400-49617800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:49616400-49618000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:49616400-49618000	Enhancers	Brain Substantia Nigra	brain
25	chr12:49616400-49618400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:49616400-49619800	Enhancers	Brain Hippocampus Middle	brain
27	chr12:49616600-49617200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:49616600-49617600	Enhancers	Fetal Brain Male	brain
29	chr12:49616600-49617800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:49616600-49619000	Weak transcription	K562	blood
31	chr12:49616800-49617400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:49616800-49617600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:49616800-49617600	Enhancers	NHDF-Ad	bronchial
34	chr12:49616800-49618800	Weak transcription	HMEC	breast
35	chr12:49616800-49619400	Weak transcription	A549	lung
36	chr12:49616800-49621000	Weak transcription	Fetal Brain Female	brain
37	chr12:49616800-49624400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:49616800-49625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:49616800-49626000	Weak transcription	Adipose Nuclei	Adipose
40	chr12:49617000-49617200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:49617000-49617200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:49617000-49617400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:49617000-49617400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:49617000-49617600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:49617000-49618000	Enhancers	Brain Anterior Caudate	brain
46	chr12:49617000-49618400	Enhancers	HSMMtube	muscle
47	chr12:49617000-49618600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:49617000-49619400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:49617000-49619400	Weak transcription	NHEK	skin
50	chr12:49617000-49619600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links