Variant report

Variant	rs74088149
Chromosome Location	chr12:49103432-49103433
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49079263..49083026-chr12:49101684..49104961,3	K562	blood:
2	chr12:49102550..49104993-chr12:49107788..49111188,3	K562	blood:
3	chr12:49100239..49102182-chr12:49102700..49104839,2	K562	blood:
4	chr12:49079263..49083026-chr12:49101907..49104961,3	K562	blood:
5	chr12:49103301..49108658-chr12:49108679..49112078,7	K562	blood:
6	chr12:49075153..49078313-chr12:49100312..49104111,3	K562	blood:
7	chr12:49099916..49103899-chr12:49108983..49111443,4	MCF-7	breast:
8	chr12:49075819..49077703-chr12:49101851..49103546,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11830884	0.93[AFR][1000 genomes]
rs11837122	1.00[AFR][1000 genomes]
rs11837277	0.83[AFR][1000 genomes]
rs11838009	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11838289	0.90[AFR][1000 genomes]
rs11838360	0.93[AFR][1000 genomes]
rs2898086	0.83[AFR][1000 genomes]
rs34046666	0.83[AMR][1000 genomes]
rs35678179	0.96[EUR][1000 genomes]
rs57337154	0.93[AFR][1000 genomes]
rs57454425	0.93[AFR][1000 genomes]
rs60351852	0.93[AFR][1000 genomes]
rs61496293	0.83[AMR][1000 genomes]
rs61751603	0.96[EUR][1000 genomes]
rs7297499	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299151	0.83[AMR][1000 genomes]
rs7312311	0.93[AFR][1000 genomes]
rs74088105	0.83[AFR][1000 genomes]
rs74088110	0.83[AFR][1000 genomes]
rs74088131	0.83[AFR][1000 genomes]
rs74088137	0.93[AFR][1000 genomes]
rs74088163	1.00[AFR][1000 genomes]
rs74088167	1.00[AFR][1000 genomes]
rs74089369	0.83[AFR][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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:49081400-49104000	Strong transcription	Hela-S3	cervix
3	chr12:49081600-49103800	Strong transcription	Dnd41	blood
4	chr12:49081600-49107200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:49081600-49107600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:49081600-49108400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:49082000-49104000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:49082000-49107600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:49082200-49107200	Strong transcription	Liver	Liver
10	chr12:49082200-49107400	Strong transcription	Placenta	Placenta
11	chr12:49082200-49108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:49082200-49108400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:49082200-49108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:49082200-49108600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:49082200-49108800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:49082600-49107600	Strong transcription	Fetal Thymus	thymus
17	chr12:49088200-49107200	Weak transcription	Small Intestine	intestine
18	chr12:49088200-49107400	Weak transcription	Psoas Muscle	Psoas
19	chr12:49088200-49107600	Weak transcription	Stomach Mucosa	stomach
20	chr12:49089800-49109400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:49090000-49107200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:49090000-49107600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:49090000-49107800	Weak transcription	Fetal Heart	heart
24	chr12:49090000-49108400	Weak transcription	Fetal Brain Male	brain
25	chr12:49091800-49104800	Strong transcription	GM12878-XiMat	blood
26	chr12:49091800-49107400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:49093400-49108000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:49095000-49108600	Strong transcription	Fetal Stomach	stomach
29	chr12:49095600-49107400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:49095600-49107800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:49095600-49108800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:49095800-49107200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:49095800-49107600	Strong transcription	A549	lung
34	chr12:49095800-49108400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:49096000-49104400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:49096000-49107200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:49096000-49107400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:49097600-49108600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:49097600-49109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:49097800-49108400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:49098200-49107600	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:49098200-49107800	Weak transcription	Fetal Kidney	kidney
43	chr12:49098200-49109600	Weak transcription	Aorta	Aorta
44	chr12:49098400-49107400	Weak transcription	Pancreas	Pancrea
45	chr12:49098600-49107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:49098800-49105200	Weak transcription	HMEC	breast
47	chr12:49098800-49108600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:49099000-49105400	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:49099000-49105400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:49099000-49107200	Weak transcription	Brain Cingulate Gyrus	brain

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