Variant report

Variant	rs2453467
Chromosome Location	chr12:49239951-49239952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49214023..49216762-chr12:49238556..49240718,2	MCF-7	breast:
2	chr12:49239374..49242226-chr12:49244513..49247650,4	K562	blood:
3	chr12:49213003..49214588-chr12:49239304..49242169,2	MCF-7	breast:
4	chr12:49230434..49232317-chr12:49239138..49241841,2	K562	blood:
5	chr12:49203980..49213270-chr12:49239370..49250118,15	MCF-7	breast:
6	chr12:49214890..49217423-chr12:49238073..49240849,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174243	Chromatin interaction
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11168749	1.00[ASN][1000 genomes]
rs11168751	1.00[ASN][1000 genomes]
rs12369114	1.00[ASN][1000 genomes]
rs12814893	1.00[ASN][1000 genomes]
rs34014405	1.00[ASN][1000 genomes]
rs36000595	1.00[ASN][1000 genomes]
rs3730308	1.00[ASN][1000 genomes]
rs55638074	1.00[ASN][1000 genomes]
rs55916159	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
2	chr12:49215600-49240000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:49216200-49240200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:49216800-49240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:49216800-49240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
8	chr12:49217400-49241000	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:49218200-49241200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:49220000-49240000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr12:49220000-49241200	Strong transcription	Lung	lung
12	chr12:49221200-49243800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:49221800-49243200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:49222600-49244200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:49227000-49244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:49230400-49244200	Weak transcription	Fetal Heart	heart
17	chr12:49233400-49243600	Weak transcription	Stomach Mucosa	stomach
18	chr12:49234000-49244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:49234000-49244200	Weak transcription	NHDF-Ad	bronchial
20	chr12:49234000-49244400	Weak transcription	Psoas Muscle	Psoas
21	chr12:49234200-49244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:49236800-49240200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:49236800-49241800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:49236800-49243800	Strong transcription	Thymus	Thymus
25	chr12:49237000-49240000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:49237000-49240000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:49237000-49240000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:49237000-49240000	Strong transcription	Ovary	ovary
29	chr12:49237000-49240000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr12:49237000-49240200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:49237000-49240200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:49237000-49240200	Strong transcription	Colonic Mucosa	Colon
33	chr12:49237000-49240200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:49237000-49240400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:49237000-49240400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:49237000-49240400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:49237000-49240600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:49237000-49240600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:49237000-49240600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:49237000-49240800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:49237000-49240800	Strong transcription	Placenta	Placenta
42	chr12:49237000-49241000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:49237000-49241000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:49237000-49241000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:49237000-49241000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:49237000-49241000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:49237000-49241000	Strong transcription	A549	lung
48	chr12:49237000-49241000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:49237000-49241000	Strong transcription	Osteobl	bone
50	chr12:49237000-49241200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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