Variant report

Variant	rs17365319
Chromosome Location	chr13:50986816-50986817
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	TCF12	chr13:50986060-50986845	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr13:50985103-50986835	SK-N-SH	brain:	n/a	n/a
3	JUND	chr13:50985101-50986819	SK-N-SH	brain:	n/a	chr13:50985752-50985763 chr13:50985493-50985504 chr13:50985755-50985764

No.	Distal block	Cell Line	Cell type
1	chr13:50965613..50967584-chr13:50985177..50987137,2	K562	blood:
2	chr13:50973047..50975458-chr13:50984345..50987088,2	K562	blood:
3	chr13:50986197..50988129-chr13:50991660..50994011,2	K562	blood:

Variant related genes	Relation type
DLEU1	TF binding region
ENSG00000176124	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1023054	0.86[ASN][1000 genomes]
rs1023055	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17366676	0.90[ASN][1000 genomes]
rs4941671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50975400-50996200	Weak transcription	Right Ventricle	heart
2	chr13:50980200-50987800	Enhancers	Thymus	Thymus
3	chr13:50980800-50988200	Enhancers	Fetal Thymus	thymus
4	chr13:50981200-50993000	Weak transcription	Fetal Heart	heart
5	chr13:50982400-50987200	Weak transcription	Aorta	Aorta
6	chr13:50983600-50987400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:50984400-50987200	Enhancers	HUVEC	blood vessel
8	chr13:50984800-50987400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:50984800-50987400	Enhancers	HSMMtube	muscle
10	chr13:50984800-50987800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:50984800-50987800	Enhancers	HSMM	muscle
12	chr13:50984800-50988000	Enhancers	Dnd41	blood
13	chr13:50985000-50987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:50985000-50987200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:50985000-50987200	Enhancers	Fetal Lung	lung
16	chr13:50985000-50987400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:50985000-50987400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr13:50985000-50987400	Enhancers	NHLF	lung
19	chr13:50985000-50987600	Enhancers	Fetal Stomach	stomach
20	chr13:50985000-50987600	Enhancers	NH-A	brain
21	chr13:50985000-50987800	Enhancers	NHDF-Ad	bronchial
22	chr13:50985000-50987800	Enhancers	Osteobl	bone
23	chr13:50985200-50987200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:50985200-50988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:50985400-50987000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:50985400-50987200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:50985600-50987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:50985600-50988400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:50985800-50987600	Enhancers	Hela-S3	cervix
30	chr13:50985800-50987800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:50985800-50987800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:50985800-50991200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr13:50985800-50991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:50985800-50991600	Weak transcription	Left Ventricle	heart
35	chr13:50986000-50987000	Enhancers	A549	lung
36	chr13:50986000-50991600	Weak transcription	HepG2	liver
37	chr13:50986400-50987000	Weak transcription	Fetal Kidney	kidney
38	chr13:50986400-50991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:50986400-50991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:50986600-50987200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:50986600-50987400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:50986800-50987800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:50986800-50994800	Weak transcription	K562	blood
44	chr13:50986800-50995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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