Variant report

Variant	rs57337154
Chromosome Location	chr12:49094080-49094081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49074472..49077646-chr12:49090893..49095740,4	MCF-7	breast:
2	chr12:49085516..49089992-chr12:49092342..49097404,5	K562	blood:
3	chr12:49085858..49087944-chr12:49092342..49095303,3	K562	blood:
4	chr12:49073473..49077014-chr12:49091691..49094539,3	K562	blood:
5	chr12:49071910..49073941-chr12:49092913..49094686,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11168603	1.00[EUR][1000 genomes]
rs11168610	1.00[EUR][1000 genomes]
rs11168626	1.00[EUR][1000 genomes]
rs11503892	1.00[EUR][1000 genomes]
rs11534	1.00[EUR][1000 genomes]
rs11551273	1.00[EUR][1000 genomes]
rs11830117	1.00[EUR][1000 genomes]
rs11830164	1.00[EUR][1000 genomes]
rs11830884	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11831374	1.00[EUR][1000 genomes]
rs11832320	1.00[EUR][1000 genomes]
rs11833394	1.00[EUR][1000 genomes]
rs11833669	1.00[EUR][1000 genomes]
rs11835422	1.00[EUR][1000 genomes]
rs11837122	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11837337	1.00[EUR][1000 genomes]
rs11837993	1.00[EUR][1000 genomes]
rs11838009	0.93[AFR][1000 genomes]
rs11838121	1.00[EUR][1000 genomes]
rs11838289	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11838360	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12300165	1.00[EUR][1000 genomes]
rs12304826	1.00[EUR][1000 genomes]
rs12305150	1.00[EUR][1000 genomes]
rs12307016	1.00[EUR][1000 genomes]
rs17123267	1.00[EUR][1000 genomes]
rs17123398	1.00[EUR][1000 genomes]
rs2898086	0.90[AFR][1000 genomes]
rs34139009	1.00[EUR][1000 genomes]
rs36119652	1.00[EUR][1000 genomes]
rs55956587	1.00[EUR][1000 genomes]
rs56179964	1.00[EUR][1000 genomes]
rs57454425	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57658152	1.00[EUR][1000 genomes]
rs59304927	1.00[EUR][1000 genomes]
rs59708884	1.00[EUR][1000 genomes]
rs60351852	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71439468	1.00[EUR][1000 genomes]
rs7297499	1.00[AFR][1000 genomes]
rs7303057	1.00[EUR][1000 genomes]
rs7312311	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7315319	1.00[EUR][1000 genomes]
rs74088105	0.90[AFR][1000 genomes]
rs74088110	0.90[AFR][1000 genomes]
rs74088131	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74088137	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74088149	0.93[AFR][1000 genomes]
rs74088163	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74088167	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74088185	1.00[EUR][1000 genomes]
rs74088186	1.00[EUR][1000 genomes]
rs74089357	1.00[EUR][1000 genomes]
rs74089364	1.00[EUR][1000 genomes]
rs7956989	1.00[EUR][1000 genomes]
rs7970421	1.00[EUR][1000 genomes]
rs7973146	1.00[EUR][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	chr12:49076600-49096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:49080800-49097400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49081000-49097200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:49081000-49101000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:49081400-49104000	Strong transcription	Hela-S3	cervix
7	chr12:49081600-49095000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:49081600-49097400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:49081600-49099800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:49081600-49103800	Strong transcription	Dnd41	blood
11	chr12:49081600-49107200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:49081600-49107600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:49081600-49108400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:49081800-49094400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:49081800-49099400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:49082000-49094800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:49082000-49104000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:49082000-49107600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:49082200-49094800	Strong transcription	NHDF-Ad	bronchial
20	chr12:49082200-49100800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:49082200-49107200	Strong transcription	Liver	Liver
22	chr12:49082200-49107400	Strong transcription	Placenta	Placenta
23	chr12:49082200-49108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:49082200-49108400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:49082200-49108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:49082200-49108600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:49082200-49108800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:49082400-49094800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:49082400-49094800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:49082400-49100200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:49082600-49107600	Strong transcription	Fetal Thymus	thymus
32	chr12:49082800-49094600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:49082800-49095200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:49082800-49101800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr12:49085800-49094400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:49086800-49094600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:49088200-49097600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:49088200-49107200	Weak transcription	Small Intestine	intestine
39	chr12:49088200-49107400	Weak transcription	Psoas Muscle	Psoas
40	chr12:49088200-49107600	Weak transcription	Stomach Mucosa	stomach
41	chr12:49088400-49098000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:49089600-49095800	Weak transcription	Fetal Brain Female	brain
43	chr12:49089600-49096000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:49089800-49096000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:49089800-49096400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:49089800-49109400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:49090000-49095600	Weak transcription	Thymus	Thymus
48	chr12:49090000-49095800	Weak transcription	Aorta	Aorta
49	chr12:49090000-49095800	Weak transcription	Spleen	Spleen
50	chr12:49090000-49096000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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