Variant report

Variant	rs56252643
Chromosome Location	chr1:47054165-47054166
allele	G/T
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	CEBPB	chr1:47053963-47054287	Hela-S3	cervix:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
2	CEBPB	chr1:47053960-47054303	K562	blood:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
3	CEBPB	chr1:47053964-47054306	HepG2	liver:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
4	CEBPB	chr1:47053895-47054286	A549	lung:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
5	CEBPB	chr1:47053978-47054220	H1-hESC	embryonic stem cell:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
6	CEBPB	chr1:47053954-47054320	IMR90	lung:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
7	CEBPB	chr1:47053972-47054321	A549	lung:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
8	CEBPB	chr1:47053946-47054211	K562	blood:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149

No.	Distal block	Cell Line	Cell type
1	chr1:47052682..47056987-chr1:47061043..47065460,4	K562	blood:
2	chr1:47054104..47055847-chr1:47061988..47063605,2	K562	blood:
3	chr1:47053959..47056132-chr1:47066697..47069062,3	K562	blood:
4	chr1:47053775..47056193-chr1:47067460..47069823,2	MCF-7	breast:
5	chr1:47040255..47042564-chr1:47053834..47056327,2	K562	blood:

Variant related genes	Relation type
MKNK1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55691598	0.96[AFR][1000 genomes]
rs56681125	1.00[AMR][1000 genomes]
rs57340896	1.00[AMR][1000 genomes]
rs60664332	1.00[AMR][1000 genomes]
rs74072635	1.00[AMR][1000 genomes]
rs74075319	1.00[AMR][1000 genomes]
rs74075321	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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 target site	17 gene(s)	inside rSNPs	diseases
6	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
2	chr1:47021800-47054600	Weak transcription	A549	lung
3	chr1:47023200-47060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:47024000-47054800	Weak transcription	HUVEC	blood vessel
5	chr1:47025600-47062400	Weak transcription	Fetal Heart	heart
6	chr1:47036000-47056400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:47036000-47060000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:47037800-47057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:47039000-47054800	Weak transcription	Hela-S3	cervix
10	chr1:47039200-47060400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:47039600-47060000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:47040200-47060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:47041200-47054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:47042200-47057200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:47042400-47057200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:47042600-47060400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:47042600-47069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:47042800-47054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:47042800-47056600	Weak transcription	Small Intestine	intestine
20	chr1:47042800-47068800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:47045600-47068800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:47046200-47056400	Weak transcription	NH-A	brain
23	chr1:47046200-47069000	Weak transcription	Fetal Kidney	kidney
24	chr1:47046400-47055200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:47046400-47057200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:47046600-47054800	Weak transcription	Stomach Mucosa	stomach
27	chr1:47046800-47054800	Weak transcription	HSMM	muscle
28	chr1:47047800-47060000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:47048000-47055000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:47048000-47058000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:47048200-47056800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:47048400-47054800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:47048400-47069000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:47048600-47056400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:47048800-47055000	Weak transcription	Osteobl	bone
36	chr1:47049000-47055200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:47049000-47056600	Weak transcription	Psoas Muscle	Psoas
38	chr1:47049200-47054600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:47049200-47055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:47049200-47057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:47049400-47054800	Weak transcription	Brain Germinal Matrix	brain
42	chr1:47049600-47056400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:47049600-47056800	Weak transcription	Brain Substantia Nigra	brain
44	chr1:47049600-47060400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:47049800-47054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:47050400-47054600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:47050400-47054600	Weak transcription	Brain Angular Gyrus	brain
48	chr1:47050400-47054600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:47050400-47054600	Weak transcription	K562	blood
50	chr1:47050400-47055000	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links