Variant report

Variant	rs12815462
Chromosome Location	chr12:48160252-48160253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48107776..48110722-chr12:48159579..48161577,2	K562	blood:
2	chr12:48137468..48138958-chr12:48159470..48161629,19	MCF-7	breast:
3	chr12:48135637..48139273-chr12:48158658..48160407,3	MCF-7	breast:
4	chr12:48126300..48127984-chr12:48159305..48162303,2	K562	blood:
5	chr12:48137571..48138453-chr12:48160089..48161617,7	MCF-7	breast:
6	chr12:48146396..48149240-chr12:48159441..48161516,3	MCF-7	breast:
7	chr12:48159584..48163240-chr12:48212349..48215466,3	MCF-7	breast:
8	chr12:48136675..48140577-chr12:48159168..48161619,5	MCF-7	breast:
9	chr12:48121380..48124034-chr12:48159649..48162276,2	MCF-7	breast:
10	chr12:48151780..48155631-chr12:48159603..48164338,5	MCF-7	breast:
11	chr12:48154545..48157015-chr12:48158766..48160780,2	MCF-7	breast:
12	chr12:48153850..48156955-chr12:48157657..48160878,3	K562	blood:
13	chr12:48158914..48160973-chr12:48211450..48214285,2	K562	blood:
14	chr12:48159551..48161566-chr12:48212867..48215590,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000211584	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000079337	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12422983	0.84[AMR][1000 genomes]
rs12423645	0.84[AMR][1000 genomes]
rs12424297	0.84[AMR][1000 genomes]
rs12426774	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12810487	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12817548	0.83[AMR][1000 genomes]
rs12818212	0.83[AMR][1000 genomes]
rs12818241	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12825831	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12831651	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48153400-48161800	Weak transcription	Aorta	Aorta
2	chr12:48153600-48161000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:48153600-48161200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:48153600-48161200	Weak transcription	NHDF-Ad	bronchial
5	chr12:48153600-48162000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:48153600-48162200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:48153600-48162800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:48153600-48166000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:48153600-48166200	Weak transcription	Brain Anterior Caudate	brain
10	chr12:48153600-48166400	Weak transcription	Fetal Brain Female	brain
11	chr12:48153600-48166800	Weak transcription	Gastric	stomach
12	chr12:48153800-48161400	Weak transcription	K562	blood
13	chr12:48153800-48162000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:48153800-48162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:48153800-48165600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:48153800-48165800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:48153800-48166200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:48154200-48161200	Weak transcription	A549	lung
19	chr12:48154200-48161200	Weak transcription	Hela-S3	cervix
20	chr12:48154400-48165800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:48156400-48161600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:48156800-48163400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:48157200-48162400	Enhancers	Fetal Thymus	thymus
24	chr12:48157600-48160800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:48157600-48164200	Weak transcription	Fetal Lung	lung
26	chr12:48157800-48160600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:48157800-48160600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:48157800-48161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:48157800-48162000	Weak transcription	Ovary	ovary
30	chr12:48157800-48165800	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:48157800-48166200	Weak transcription	Lung	lung
32	chr12:48157800-48166200	Weak transcription	Right Atrium	heart
33	chr12:48158200-48160600	Weak transcription	Primary B cells from cord blood	blood
34	chr12:48158200-48164800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:48158200-48166600	Weak transcription	Fetal Kidney	kidney
36	chr12:48158400-48160600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:48158400-48163800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:48158400-48164400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:48158600-48164800	Enhancers	NHEK	skin
40	chr12:48159000-48161600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:48159200-48160600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:48159200-48160800	Enhancers	Adipose Nuclei	Adipose
43	chr12:48159200-48161000	Enhancers	Left Ventricle	heart
44	chr12:48159200-48161200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:48159200-48161600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:48159200-48162600	Enhancers	Thymus	Thymus
47	chr12:48159200-48162800	Weak transcription	Esophagus	oesophagus
48	chr12:48159400-48160400	Enhancers	Colon Smooth Muscle	Colon
49	chr12:48159400-48160600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:48159400-48166600	Weak transcription	Colonic Mucosa	Colon

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