Variant report

Variant	rs1523178
Chromosome Location	chr13:50652456-50652457
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:50652432-50652580	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr13:50652347-50652585	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr13:50652390-50652698	K562	blood:	n/a	n/a
4	ARID3A	chr13:50652296-50652758	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50651411..50654325-chr13:50705233..50708139,2	K562	blood:
2	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
3	chr13:50571255..50572923-chr13:50651167..50653768,2	MCF-7	breast:
4	chr13:50650539..50652612-chr13:50698444..50701026,2	K562	blood:
5	chr13:50569852..50573038-chr13:50651628..50659276,11	K562	blood:
6	chr13:50649792..50652583-chr13:50676207..50678112,2	K562	blood:
7	chr13:50632595..50634463-chr13:50649571..50652516,2	K562	blood:
8	chr13:50651347..50654585-chr13:50679189..50682334,3	K562	blood:
9	chr13:50569462..50575212-chr13:50651363..50657415,15	K562	blood:
10	chr13:50651076..50653449-chr13:50697997..50700597,2	MCF-7	breast:
11	chr13:50648613..50653610-chr13:50653770..50656813,5	MCF-7	breast:
12	chr13:50652189..50666968-chr13:50693462..50701392,46	MCF-7	breast:
13	chr13:50588073..50590248-chr13:50651989..50655171,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLEU1-2	chr13:50645106-50655642	NONHSAT033808

No data

Variant related genes	Relation type
DLEU1	TF binding region
ENSG00000204977	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000198553	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12876820	1.00[AFR][1000 genomes]
rs2066590	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2812203	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9316484	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9526636	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9535415	0.85[AMR][1000 genomes];0.82[EUR][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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
2	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
4	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
7	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:50622600-50653400	Weak transcription	Fetal Brain Male	brain
9	chr13:50622800-50653400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr13:50624400-50654200	Weak transcription	Pancreas	Pancrea
11	chr13:50625400-50654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:50626600-50654000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr13:50633000-50653600	Weak transcription	Fetal Stomach	stomach
14	chr13:50638400-50653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:50641400-50654200	Weak transcription	Left Ventricle	heart
16	chr13:50641600-50653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:50641800-50654400	Weak transcription	Lung	lung
18	chr13:50642600-50653000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:50642600-50653600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr13:50642600-50654600	Weak transcription	Gastric	stomach
21	chr13:50643000-50653200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr13:50643200-50653400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:50645400-50653000	Enhancers	Primary T cells from cord blood	blood
24	chr13:50645400-50653200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr13:50645800-50652600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:50646000-50654200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:50646000-50654400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:50646200-50654400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr13:50646400-50653000	Weak transcription	Brain Hippocampus Middle	brain
30	chr13:50646600-50653400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr13:50648400-50657400	Active TSS	GM12878-XiMat	blood
32	chr13:50649000-50652800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr13:50649200-50655200	Active TSS	Brain Germinal Matrix	brain
34	chr13:50650000-50653000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr13:50650400-50652600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:50650400-50653600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:50650400-50653600	Weak transcription	Fetal Intestine Small	intestine
38	chr13:50650400-50654200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr13:50650600-50653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:50651000-50652800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:50651000-50653600	Weak transcription	Brain Substantia Nigra	brain
42	chr13:50651000-50654200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr13:50651400-50653200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:50651400-50653800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:50651600-50652600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:50651600-50652600	Enhancers	Fetal Lung	lung
47	chr13:50651600-50653200	Enhancers	Fetal Heart	heart
48	chr13:50651600-50653200	Enhancers	Stomach Mucosa	stomach
49	chr13:50651600-50653600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr13:50651600-50654400	Flanking Active TSS	Primary B cells from cord blood	blood

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