Variant report

Variant	rs12322965
Chromosome Location	chr12:49608074-49608075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49607696..49610266-chr12:49612942..49614601,2	K562	blood:
2	chr12:49523661..49526091-chr12:49606547..49609332,3	MCF-7	breast:
3	chr12:49580930..49584417-chr12:49606768..49610900,5	MCF-7	breast:
4	chr12:49487549..49489112-chr12:49607441..49609024,2	K562	blood:
5	chr12:49606877..49609072-chr12:49657930..49661818,3	K562	blood:
6	chr12:49606836..49608508-chr12:49621883..49624285,2	K562	blood:

Variant related genes	Relation type
ENSG00000167552	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000139549	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10219709	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168898	1.00[AMR][1000 genomes]
rs11168899	1.00[AMR][1000 genomes]
rs11168905	1.00[AMR][1000 genomes]
rs11168913	1.00[AMR][1000 genomes]
rs11168916	1.00[AMR][1000 genomes]
rs11168918	1.00[AMR][1000 genomes]
rs11168923	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296189	1.00[AMR][1000 genomes]
rs12296265	1.00[AMR][1000 genomes]
rs12297125	0.83[AMR][1000 genomes]
rs12298869	1.00[AMR][1000 genomes]
rs12307514	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12315823	1.00[AMR][1000 genomes]
rs12318970	1.00[AMR][1000 genomes]
rs12321120	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61648563	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49592800-49608600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:49596000-49608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:49606400-49608400	Enhancers	Brain Substantia Nigra	brain
4	chr12:49606400-49608600	Enhancers	Brain Hippocampus Middle	brain
5	chr12:49606400-49608800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:49606400-49608800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:49606400-49608800	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:49606400-49608800	Enhancers	Fetal Brain Female	brain
9	chr12:49606400-49610200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:49606600-49608400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:49606600-49608600	Enhancers	Brain Angular Gyrus	brain
12	chr12:49606600-49608600	Enhancers	Brain Anterior Caudate	brain
13	chr12:49606600-49608600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:49606600-49608800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:49606600-49608800	Enhancers	HSMMtube	muscle
16	chr12:49606600-49609200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:49606600-49609600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:49606600-49610000	Enhancers	NHLF	lung
19	chr12:49606800-49608400	Weak transcription	Fetal Lung	lung
20	chr12:49606800-49608400	Weak transcription	Fetal Stomach	stomach
21	chr12:49606800-49608600	Enhancers	Colon Smooth Muscle	Colon
22	chr12:49606800-49608600	Enhancers	HSMM	muscle
23	chr12:49606800-49609400	Enhancers	A549	lung
24	chr12:49606800-49609400	Enhancers	NHDF-Ad	bronchial
25	chr12:49607000-49608400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:49607200-49609200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:49607200-49609400	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:49607200-49609400	Enhancers	Osteobl	bone
29	chr12:49607200-49610000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:49607200-49610000	Enhancers	NH-A	brain
31	chr12:49607400-49608400	Weak transcription	Brain Germinal Matrix	brain
32	chr12:49607400-49608800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:49607400-49608800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:49607400-49609000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:49607400-49609200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:49607600-49608600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:49607600-49609400	Enhancers	Fetal Kidney	kidney
38	chr12:49607600-49610200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:49607600-49611000	Enhancers	Fetal Brain Male	brain
40	chr12:49607800-49608400	Weak transcription	Adipose Nuclei	Adipose
41	chr12:49607800-49608800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:49607800-49609400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:49607800-49609600	Enhancers	Fetal Muscle Trunk	muscle
44	chr12:49607800-49612200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:49608000-49608400	Weak transcription	Hela-S3	cervix
46	chr12:49608000-49608600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:49608000-49616400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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