Variant report

Variant	rs1056543
Chromosome Location	chr13:50587140-50587141
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr13:50587083-50587225	Hela-S3	cervix:	n/a	chr13:50587094-50587109
2	POLR2A	chr13:50585507-50587216	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr13:50584992-50587629	K562	blood:	n/a	n/a
4	POLR2A	chr13:50583890-50587168	MCF-7	breast:	n/a	n/a
5	POLR2A	chr13:50586401-50587170	GM12878	blood:	n/a	n/a
6	MAFF	chr13:50586969-50587263	K562	blood:	n/a	chr13:50587092-50587110
7	POLR2A	chr13:50586930-50587190	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr13:50585846-50587183	A549	lung:	n/a	n/a
9	MAFK	chr13:50586959-50587272	HepG2	liver:	n/a	chr13:50587094-50587109
10	POLR2A	chr13:50584872-50587243	GM12891	blood:	n/a	n/a
11	POLR2A	chr13:50585661-50587262	HL-60	blood:	n/a	n/a
12	MAFF	chr13:50586944-50587276	HepG2	liver:	n/a	chr13:50587092-50587110
13	MAFK	chr13:50586972-50587264	IMR90	lung:	n/a	chr13:50587094-50587109
14	MAFK	chr13:50586958-50587273	HepG2	liver:	n/a	chr13:50587094-50587109

No.	Distal block	Cell Line	Cell type
1	chr13:50585726..50587575-chr13:50588253..50590960,2	MCF-7	breast:
2	chr13:50586557..50588061-chr13:50589574..50592022,2	K562	blood:
3	chr13:50572525..50574239-chr13:50585255..50587483,2	MCF-7	breast:
4	chr13:50571282..50572929-chr13:50585786..50587490,2	MCF-7	breast:

Variant related genes	Relation type
KCNRG	TF binding region
ENSG00000198553	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1326121	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs1853926	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs2066560	1.00[AMR][1000 genomes]
rs2066569	1.00[AMR][1000 genomes]
rs2066570	1.00[AMR][1000 genomes]
rs2066577	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2066578	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2066580	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2066582	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2066588	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs41284812	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41284814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55937551	0.86[AMR][1000 genomes]
rs58535000	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs58584173	0.93[AMR][1000 genomes]
rs59019111	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59881118	1.00[EUR][1000 genomes]
rs61558258	1.00[EUR][1000 genomes]
rs61623782	0.93[AMR][1000 genomes]
rs6561574	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs7319019	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs73491507	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491532	1.00[AMR][1000 genomes]
rs73494012	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73494027	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73494029	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73494031	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs74076539	0.86[AMR][1000 genomes]
rs74078710	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs74078712	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs74078721	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078724	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7986331	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7993496	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8001223	1.00[CEU][hapmap];0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 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	chr13:50572600-50589600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50573000-50594600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:50573800-50588600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:50573800-50589400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:50573800-50590200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:50574000-50599600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:50574200-50589000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:50574200-50591000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr13:50574600-50588800	Weak transcription	Stomach Mucosa	stomach
10	chr13:50574800-50588000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:50574800-50588600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:50575600-50588600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:50576400-50589400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr13:50577600-50587600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:50577600-50594200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:50577600-50594400	Weak transcription	Fetal Brain Male	brain
17	chr13:50578000-50596000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr13:50578200-50590200	Strong transcription	Fetal Muscle Leg	muscle
19	chr13:50578600-50604200	Strong transcription	Dnd41	blood
20	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
22	chr13:50579000-50597200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:50579000-50598000	Weak transcription	Pancreas	Pancrea
24	chr13:50580800-50588600	Weak transcription	Colon Smooth Muscle	Colon
25	chr13:50580800-50589600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:50581000-50588400	Strong transcription	Fetal Stomach	stomach
27	chr13:50581200-50589600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:50581800-50588200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:50581800-50602800	Strong transcription	Fetal Thymus	thymus
30	chr13:50582200-50588200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:50582200-50588800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr13:50582200-50603600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr13:50582400-50587600	Strong transcription	NH-A	brain
34	chr13:50582400-50588800	Strong transcription	Osteobl	bone
35	chr13:50582400-50590400	Strong transcription	Fetal Intestine Large	intestine
36	chr13:50582600-50587200	Strong transcription	Primary B cells from cord blood	blood
37	chr13:50582600-50587200	Strong transcription	Thymus	Thymus
38	chr13:50582600-50587400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr13:50582600-50589600	Strong transcription	NHDF-Ad	bronchial
40	chr13:50582600-50591200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr13:50582800-50587600	Strong transcription	Fetal Brain Female	brain
42	chr13:50582800-50588400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr13:50582800-50588800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:50583200-50588800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:50583400-50589200	Strong transcription	HUVEC	blood vessel
46	chr13:50583800-50588800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:50584000-50592400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr13:50584200-50587400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr13:50584200-50587600	Strong transcription	Placenta	Placenta
50	chr13:50584400-50587200	Strong transcription	Primary T cells fromperipheralblood	blood

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