Variant report

Variant	rs56368293
Chromosome Location	chr3:51424760-51424761
allele	A/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	CEBPB	chr3:51424663-51425019	IMR90	lung:	n/a	chr3:51424843-51424854
2	CEBPB	chr3:51424656-51425051	K562	blood:	n/a	chr3:51424843-51424854
3	POLR2A	chr3:51424697-51425421	K562	blood:	n/a	n/a
4	EP300	chr3:51424740-51424940	K562	blood:	n/a	n/a
5	CEBPB	chr3:51424731-51424984	HepG2	liver:	n/a	chr3:51424843-51424854
6	CEBPB	chr3:51424691-51424962	Hela-S3	cervix:	n/a	chr3:51424843-51424854
7	POLR2A	chr3:51420469-51426170	HepG2	liver:	n/a	n/a
8	ZNF384	chr3:51424693-51425153	K562	blood:	n/a	n/a
9	CEBPB	chr3:51424706-51424941	K562	blood:	n/a	chr3:51424843-51424854
10	CEBPB	chr3:51424696-51425056	K562	blood:	n/a	chr3:51424843-51424854

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50607017..50612379-chr3:51423330..51426962,5	MCF-7	breast:

Variant related genes	Relation type
RBM15B	TF binding region
MANF	TF binding region
ENSG00000088543	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55701928	1.00[AMR][1000 genomes]
rs55760693	1.00[AMR][1000 genomes]
rs56037427	1.00[AMR][1000 genomes]
rs56254449	1.00[AMR][1000 genomes]
rs56307672	1.00[AMR][1000 genomes]
rs56870664	1.00[AMR][1000 genomes]
rs56940802	1.00[AMR][1000 genomes]
rs57164594	1.00[AMR][1000 genomes]
rs57577112	1.00[AMR][1000 genomes]
rs58236908	1.00[AMR][1000 genomes]
rs60166061	1.00[AMR][1000 genomes]
rs61337570	1.00[AMR][1000 genomes]
rs6804101	1.00[AMR][1000 genomes]
rs73833991	1.00[AMR][1000 genomes]
rs73833993	1.00[AMR][1000 genomes]
rs73833996	1.00[AMR][1000 genomes]
rs73834257	1.00[AMR][1000 genomes]
rs73834273	1.00[AMR][1000 genomes]
rs73834274	1.00[AMR][1000 genomes]
rs73837406	1.00[AMR][1000 genomes]
rs73837421	1.00[AMR][1000 genomes]
rs73837425	1.00[AMR][1000 genomes]
rs73837428	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats 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 target site	53 gene(s)	inside rSNPs	diseases
4	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr3:51421400-51426000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:51423200-51425200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:51423400-51425000	Weak transcription	Ovary	ovary
4	chr3:51423400-51425400	Flanking Active TSS	HUVEC	blood vessel
5	chr3:51423400-51425600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr3:51423600-51425000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:51423600-51425400	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr3:51423600-51426000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:51423600-51426000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
10	chr3:51423600-51427800	Genic enhancers	Primary T cells from cord blood	blood
11	chr3:51423800-51424800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:51423800-51424800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr3:51423800-51425000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr3:51423800-51425200	Genic enhancers	Primary B cells from cord blood	blood
15	chr3:51423800-51425400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:51423800-51425600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr3:51423800-51426000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:51423800-51426000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr3:51423800-51426000	Enhancers	Fetal Brain Male	brain
20	chr3:51423800-51426000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr3:51423800-51426000	Transcr. at gene 5' and 3'	NHLF	lung
22	chr3:51423800-51426200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
23	chr3:51423800-51426600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:51423800-51427400	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr3:51423800-51428200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:51423800-51428400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:51424000-51424800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr3:51424000-51424800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:51424000-51425200	Weak transcription	Small Intestine	intestine
30	chr3:51424000-51425600	Genic enhancers	Spleen	Spleen
31	chr3:51424000-51426600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:51424000-51426600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:51424000-51426800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
34	chr3:51424000-51427400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:51424200-51425000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:51424200-51425000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:51424200-51425000	Weak transcription	Brain Substantia Nigra	brain
38	chr3:51424200-51425000	Enhancers	Fetal Heart	heart
39	chr3:51424200-51425000	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr3:51424200-51425200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:51424200-51425200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:51424200-51425200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr3:51424200-51425200	Weak transcription	Aorta	Aorta
44	chr3:51424200-51425200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr3:51424200-51425400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:51424200-51425400	Genic enhancers	Adipose Nuclei	Adipose
47	chr3:51424200-51425600	Genic enhancers	A549	lung
48	chr3:51424200-51425800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:51424200-51425800	Genic enhancers	Brain Anterior Caudate	brain
50	chr3:51424200-51426000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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