Variant report

Variant	rs57687995
Chromosome Location	chr15:51906479-51906480
allele	C/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	MAFK	chr15:51906260-51906590	HepG2	liver:	n/a	chr15:51906421-51906436
2	MAFF	chr15:51906327-51906597	HepG2	liver:	n/a	chr15:51906419-51906437
3	MAFK	chr15:51906311-51906549	IMR90	lung:	n/a	chr15:51906421-51906436
4	MAFK	chr15:51906282-51906589	HepG2	liver:	n/a	chr15:51906421-51906436
5	MAFF	chr15:51906313-51906609	K562	blood:	n/a	chr15:51906419-51906437

No.	Distal block	Cell Line	Cell type
1	chr15:51904892..51907829-chr15:51916271..51917973,2	MCF-7	breast:
2	chr15:51904383..51907963-chr15:51911974..51914714,3	K562	blood:
3	chr15:51905600..51910190-chr15:51910807..51915670,11	MCF-7	breast:
4	chr15:51871179..51874131-chr15:51904506..51906716,2	K562	blood:
5	chr15:51892783..51896070-chr15:51903536..51906578,4	K562	blood:

Variant related genes	Relation type
ENSG00000263437	TF binding region
ENSG00000104093	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56035766	1.00[AMR][1000 genomes]
rs58191646	1.00[AMR][1000 genomes]
rs74013213	1.00[AMR][1000 genomes]
rs74013214	1.00[AMR][1000 genomes]
rs74013219	1.00[AMR][1000 genomes]
rs74013299	1.00[AMR][1000 genomes]
rs74016404	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv569408	chr15:51867172-51946100	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51889400-51909400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:51892600-51913000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:51893000-51911000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:51895000-51911600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:51895200-51913000	Weak transcription	HMEC	breast
6	chr15:51897200-51910800	Weak transcription	A549	lung
7	chr15:51902600-51909600	Weak transcription	K562	blood
8	chr15:51903600-51913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:51904200-51907400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:51904200-51911600	Weak transcription	Brain Germinal Matrix	brain
11	chr15:51904200-51914000	Weak transcription	Lung	lung
12	chr15:51904400-51912800	Weak transcription	Fetal Stomach	stomach
13	chr15:51905200-51907400	Weak transcription	Hela-S3	cervix
14	chr15:51905200-51911400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:51905200-51912800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:51905200-51913000	Weak transcription	NHDF-Ad	bronchial
17	chr15:51905400-51911400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:51905800-51908800	Genic enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:51905800-51911600	Weak transcription	Fetal Brain Female	brain
20	chr15:51905800-51912800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:51906000-51906800	Enhancers	Fetal Intestine Large	intestine
22	chr15:51906000-51906800	Enhancers	Fetal Intestine Small	intestine
23	chr15:51906000-51909600	Weak transcription	Brain Anterior Caudate	brain
24	chr15:51906000-51911800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:51906000-51913000	Weak transcription	Adipose Nuclei	Adipose
26	chr15:51906200-51907000	Enhancers	Duodenum Mucosa	Duodenum
27	chr15:51906200-51907200	Weak transcription	Fetal Lung	lung
28	chr15:51906200-51909600	Weak transcription	Fetal Kidney	kidney
29	chr15:51906200-51911600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:51906200-51912800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:51906200-51914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:51906200-51914000	Weak transcription	Ovary	ovary
33	chr15:51906200-51914000	Weak transcription	Small Intestine	intestine
34	chr15:51906400-51906800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:51906400-51907200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr15:51906400-51908200	Strong transcription	Dnd41	blood
37	chr15:51906400-51913000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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