Variant report

Variant	rs12318666
Chromosome Location	chr12:49616687-49616688
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258017	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10047512	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10047588	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1109811	1.00[AMR][1000 genomes]
rs11168925	1.00[AMR][1000 genomes]
rs11168927	1.00[AMR][1000 genomes]
rs11168928	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168931	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168938	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11168939	1.00[AMR][1000 genomes]
rs11168940	1.00[AMR][1000 genomes]
rs11168942	1.00[AMR][1000 genomes]
rs11168955	1.00[YRI][hapmap]
rs12296231	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296536	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297433	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12300386	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300998	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303188	0.85[YRI][hapmap]
rs12304259	0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304483	1.00[AMR][1000 genomes]
rs12304746	1.00[AMR][1000 genomes]
rs12309028	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12314967	1.00[AMR][1000 genomes]
rs12322876	0.83[AFR][1000 genomes];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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49608800-49616800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:49608800-49617800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:49609200-49616800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:49609200-49616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:49610200-49616800	Weak transcription	Fetal Thymus	thymus
6	chr12:49610200-49625800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:49612200-49620200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:49613800-49616800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:49614200-49618400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:49614800-49617200	Weak transcription	Spleen	Spleen
11	chr12:49614800-49618000	Enhancers	Primary B cells from cord blood	blood
12	chr12:49615200-49618600	Enhancers	Fetal Muscle Leg	muscle
13	chr12:49615200-49625600	Weak transcription	Placenta	Placenta
14	chr12:49615600-49616800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:49615800-49617800	Enhancers	HSMM	muscle
16	chr12:49616000-49616800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:49616000-49616800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:49616000-49616800	Enhancers	Fetal Brain Female	brain
19	chr12:49616000-49617200	Enhancers	Colon Smooth Muscle	Colon
20	chr12:49616000-49618400	Enhancers	Fetal Muscle Trunk	muscle
21	chr12:49616200-49616800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:49616200-49617000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:49616200-49617000	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:49616200-49617200	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:49616200-49617200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:49616200-49617200	Enhancers	Osteobl	bone
27	chr12:49616200-49617800	Enhancers	NHLF	lung
28	chr12:49616400-49616800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:49616400-49616800	Enhancers	HMEC	breast
30	chr12:49616400-49616800	Flanking Active TSS	NHDF-Ad	bronchial
31	chr12:49616400-49617000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:49616400-49617000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:49616400-49617000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:49616400-49617000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr12:49616400-49617000	Enhancers	Fetal Lung	lung
36	chr12:49616400-49617000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:49616400-49617000	Enhancers	HUVEC	blood vessel
38	chr12:49616400-49617200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:49616400-49617400	Enhancers	NH-A	brain
40	chr12:49616400-49617600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:49616400-49617800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:49616400-49617800	Enhancers	Brain Angular Gyrus	brain
43	chr12:49616400-49617800	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:49616400-49617800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:49616400-49618000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:49616400-49618000	Enhancers	Brain Substantia Nigra	brain
47	chr12:49616400-49618400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:49616400-49619800	Enhancers	Brain Hippocampus Middle	brain
49	chr12:49616600-49616800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:49616600-49616800	Enhancers	Adipose Nuclei	Adipose

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