Variant report

Variant	rs192491374
Chromosome Location	chr13:51106151-51106152
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	STAT3	chr13:51106080-51106400	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr13:51106034-51106464	H1-hESC	embryonic stem cell:	n/a	chr13:51106230-51106249
3	CTCF	chr13:51106120-51106270	SAEC	small airway:	n/a	chr13:51106232-51106250
4	CTCF	chr13:51106115-51106355	Lung_OC	lung:	n/a	chr13:51106232-51106250
5	RAD21	chr13:51106053-51106414	GM12878	blood:	n/a	chr13:51106230-51106249
6	CTCF	chr13:51106077-51106389	A549	lung:	n/a	chr13:51106232-51106250
7	CTCF	chr13:51106120-51106270	HFF	foreskin:	n/a	chr13:51106232-51106250
8	CTCF	chr13:51106100-51106250	NHLF	lung:	n/a	chr13:51106232-51106250
9	CTCF	chr13:51106145-51106358	GM12878	blood:	n/a	chr13:51106232-51106250
10	CTCF	chr13:51105797-51106573	A549	lung:	n/a	chr13:51106232-51106250
11	RAD21	chr13:51106020-51106472	SK-N-SH_RA	brain:	n/a	chr13:51106230-51106249
12	RAD21	chr13:51106014-51106367	ECC-1	luminal epithelium:	n/a	chr13:51106230-51106249
13	CTCF	chr13:51106129-51106364	Pancreas_OC	pancreas:	n/a	chr13:51106232-51106250
14	RAD21	chr13:51105942-51106504	HCT-116	colon:	n/a	chr13:51106230-51106249
15	RAD21	chr13:51105947-51106498	IMR90	lung:	n/a	chr13:51106230-51106249
16	RAD21	chr13:51106069-51106428	H1-hESC	embryonic stem cell:	n/a	chr13:51106230-51106249
17	CTCF	chr13:51106058-51106343	H1-hESC	embryonic stem cell:	n/a	chr13:51106232-51106250
18	CTCF	chr13:51106140-51106290	HL-60	blood:	n/a	chr13:51106232-51106250
19	FOS	chr13:51105998-51106383	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr13:51106107-51106446	A549	lung:	n/a	chr13:51106230-51106249
21	CTCF	chr13:51106110-51106393	K562	blood:	n/a	chr13:51106232-51106250
22	CTCF	chr13:51106120-51106270	HepG2	liver:	n/a	chr13:51106232-51106250
23	RAD21	chr13:51106007-51106457	SK-N-SH_RA	brain:	n/a	chr13:51106230-51106249
24	SMC3	chr13:51105605-51107176	SK-N-SH	brain:	n/a	chr13:51106234-51106248
25	CTCF	chr13:51106140-51106290	AG09309	skin:	n/a	chr13:51106232-51106250
26	CTCF	chr13:51106010-51106394	HepG2	liver:	n/a	chr13:51106232-51106250
27	RAD21	chr13:51106112-51106381	GM12878	blood:	n/a	chr13:51106230-51106249
28	RAD21	chr13:51106035-51106427	H1-hESC	embryonic stem cell:	n/a	chr13:51106230-51106249
29	RAD21	chr13:51105925-51106519	HCT-116	colon:	n/a	chr13:51106230-51106249
30	CTCF	chr13:51106120-51106270	HCM	heart:	n/a	chr13:51106232-51106250
31	CTCF	chr13:51106112-51106307	HepG2	liver:	n/a	chr13:51106232-51106250
32	CTCF	chr13:51106107-51106378	Spleen_OC	spleen:	n/a	chr13:51106232-51106250
33	CTCF	chr13:51106100-51106250	RPTEC	kidney:	n/a	chr13:51106232-51106250
34	RFX5	chr13:51105961-51106334	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr13:51106095-51106385	HUVEC	blood vessel:	n/a	chr13:51106232-51106250
36	RAD21	chr13:51105971-51106505	MCF-7	breast:	n/a	chr13:51106230-51106249
37	SMC3	chr13:51105995-51106447	Hela-S3	cervix:	n/a	chr13:51106234-51106248
38	CTCF	chr13:51105734-51106467	SK-N-SH	brain:	n/a	chr13:51106232-51106250
39	RAD21	chr13:51105994-51106508	MCF-7	breast:	n/a	chr13:51106230-51106249
40	CTCF	chr13:51106140-51106290	GM06990	blood:	n/a	chr13:51106232-51106250
41	CTCF	chr13:51106148-51106338	K562	blood:	n/a	chr13:51106232-51106250
42	CTCF	chr13:51106120-51106270	MCF-7	breast:	n/a	chr13:51106232-51106250
43	CTCF	chr13:51106120-51106270	HAc	cerebellar:	n/a	chr13:51106232-51106250
44	CTCF	chr13:51106140-51106290	GM12874	blood:	n/a	chr13:51106232-51106250
45	ZNF143	chr13:51106134-51106359	GM12878	blood:	n/a	n/a
46	RAD21	chr13:51105884-51106529	HepG2	liver:	n/a	chr13:51106230-51106249
47	CTCF	chr13:51106094-51106302	ECC-1	luminal epithelium:	n/a	chr13:51106232-51106250
48	SMC3	chr13:51106031-51106469	GM12878	blood:	n/a	chr13:51106234-51106248
49	RAD21	chr13:51105970-51106431	HepG2	liver:	n/a	chr13:51106230-51106249
50	RAD21	chr13:51105973-51106448	Hela-S3	cervix:	n/a	chr13:51106230-51106249

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:60083238..60083858-chr13:51105851..51106693,2	MCF-7	breast:
2	chr13:50698162..50700615-chr13:51105796..51107576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229323	TF binding region
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv3435226	chr13:51105948-51106176	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51103800-51110600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:51104000-51106200	Enhancers	Liver	Liver
3	chr13:51104000-51106400	Weak transcription	Thymus	Thymus
4	chr13:51104000-51106800	Enhancers	Osteobl	bone
5	chr13:51104400-51106200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:51104400-51106800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:51104600-51106600	Weak transcription	HMEC	breast
8	chr13:51104600-51106600	Weak transcription	HUVEC	blood vessel
9	chr13:51104600-51107000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:51104800-51108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:51104800-51110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:51105600-51106200	Enhancers	HSMM	muscle
13	chr13:51105600-51107000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:51105800-51106200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:51105800-51106200	Enhancers	Fetal Heart	heart
16	chr13:51105800-51106200	Enhancers	HSMMtube	muscle
17	chr13:51105800-51106200	Enhancers	NHDF-Ad	bronchial
18	chr13:51105800-51107200	Enhancers	NH-A	brain
19	chr13:51106000-51106200	Enhancers	Brain Anterior Caudate	brain
20	chr13:51106000-51106200	Enhancers	Fetal Kidney	kidney
21	chr13:51106000-51106200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr13:51106000-51106200	Enhancers	Rectal Smooth Muscle	rectum
23	chr13:51106000-51106200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr13:51106000-51107800	Weak transcription	Dnd41	blood

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