Variant report

Variant	rs59787033
Chromosome Location	chr12:48521547-48521548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48520102..48522830-chr12:48525176..48527649,3	MCF-7	breast:
2	chr12:48518849..48522822-chr12:48523598..48527122,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs55759881	0.83[AMR][1000 genomes]
rs55789595	0.83[AMR][1000 genomes]
rs55991805	1.00[AMR][1000 genomes]
rs57539024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148022	0.83[AMR][1000 genomes]
rs58373242	0.83[AMR][1000 genomes]
rs59051221	1.00[AMR][1000 genomes]
rs59643562	1.00[AMR][1000 genomes]
rs59896935	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60001451	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60316794	1.00[AMR][1000 genomes]
rs61558457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61750873	0.83[AMR][1000 genomes]
rs7316275	1.00[AMR][1000 genomes]
rs74086781	0.83[AMR][1000 genomes]
rs74086968	0.83[AMR][1000 genomes]
rs74086984	1.00[AMR][1000 genomes]
rs74089112	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089149	1.00[AMR][1000 genomes]
rs74089151	1.00[AMR][1000 genomes]
rs74089154	1.00[AMR][1000 genomes]
rs74089161	1.00[AMR][1000 genomes]
rs74089171	1.00[AMR][1000 genomes]
rs74089540	0.83[AMR][1000 genomes]
rs74089548	0.83[AMR][1000 genomes]
rs74089549	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48513400-48524800	Weak transcription	Liver	Liver
2	chr12:48513400-48526600	Weak transcription	Spleen	Spleen
3	chr12:48513600-48526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:48513600-48527000	Weak transcription	Pancreas	Pancrea
5	chr12:48513800-48524400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:48513800-48525000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:48513800-48525000	Weak transcription	Lung	lung
8	chr12:48513800-48525800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:48513800-48526000	Weak transcription	Colonic Mucosa	Colon
10	chr12:48513800-48526400	Weak transcription	Gastric	stomach
11	chr12:48513800-48526600	Weak transcription	Thymus	Thymus
12	chr12:48513800-48526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:48514000-48522000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:48514000-48522200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:48514000-48523200	Weak transcription	Fetal Kidney	kidney
16	chr12:48514000-48524200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:48514000-48524200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:48514000-48524600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:48514000-48525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:48514000-48525000	Weak transcription	Brain Substantia Nigra	brain
21	chr12:48514000-48525000	Weak transcription	Esophagus	oesophagus
22	chr12:48514000-48525600	Weak transcription	Placenta	Placenta
23	chr12:48514000-48526400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:48514000-48526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:48514000-48526600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:48514000-48537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:48514200-48523200	Weak transcription	HSMMtube	muscle
29	chr12:48514200-48527000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:48514400-48523200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:48514400-48525400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:48514400-48526400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:48514600-48526200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:48514800-48526000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:48515200-48523400	Weak transcription	Dnd41	blood
36	chr12:48515400-48522200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:48515600-48535600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:48515800-48522000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:48515800-48522400	Strong transcription	NHDF-Ad	bronchial
40	chr12:48515800-48535600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:48515800-48545600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:48516200-48529600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:48516200-48545400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:48516200-48547200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:48516400-48522200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:48516400-48523000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:48516400-48524200	Strong transcription	HMEC	breast
48	chr12:48516400-48529400	Strong transcription	Ovary	ovary
49	chr12:48516400-48529600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:48516400-48535600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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