Variant report

Variant	rs563191636
Chromosome Location	chr14:65231763-65231764
allele	C/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	EP300	chr14:65226747-65231955	SK-N-SH	brain:	n/a	chr14:65229497-65229513 chr14:65231359-65231366 chr14:65228770-65228786 chr14:65231099-65231108
2	POLR2A	chr14:65230887-65231822	Hela-S3	cervix:	n/a	n/a
3	MYC	chr14:65231109-65231974	A549	lung:	n/a	chr14:65231457-65231467
4	CTCF	chr14:65231433-65231837	NHEK	skin:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
5	CTCF	chr14:65231543-65231819	Hela-S3	cervix:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
6	E2F6	chr14:65231222-65231790	A549	lung:	n/a	chr14:65231460-65231470
7	MAX	chr14:65231169-65231947	MCF-7	breast:	n/a	chr14:65231457-65231467
8	CTCF	chr14:65231492-65231830	Spleen_OC	spleen:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
9	RAD21	chr14:65231463-65231856	Hela-S3	cervix:	n/a	chr14:65231656-65231675 chr14:65231658-65231670
10	CTCF	chr14:65231509-65231830	Pancreas_OC	pancreas:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
11	RAD21	chr14:65231397-65231778	H1-hESC	embryonic stem cell:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
12	POLR2A	chr14:65231533-65231798	K562	blood:	n/a	n/a
13	RAD21	chr14:65231161-65231810	A549	lung:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
14	CTCF	chr14:65231620-65231770	GM12801	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
15	CTCF	chr14:65231620-65231770	WI-38	lung:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
16	BRCA1	chr14:65231615-65231794	Hela-S3	cervix:	n/a	n/a
17	SP1	chr14:65231288-65231933	A549	lung:	n/a	chr14:65231553-65231560 chr14:65231463-65231472
18	CTCF	chr14:65231620-65231770	GM12864	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
19	CTCF	chr14:65231508-65231801	Medullo	brain:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
20	CTCF	chr14:65231523-65231807	Gliobla	brain:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
21	CTCF	chr14:65231553-65231789	HepG2	liver:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
22	CTCF	chr14:65231412-65231951	K562	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
23	CTCF	chr14:65231620-65231770	BE2_C	brain:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
24	CTCF	chr14:65231640-65231790	HFF-Myc	foreskin:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
25	RAD21	chr14:65231343-65231907	A549	lung:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
26	MYC	chr14:65231614-65231774	MCF-7	breast:	n/a	n/a
27	RAD21	chr14:65231091-65231865	IMR90	lung:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
28	RAD21	chr14:65231335-65231906	ECC-1	luminal epithelium:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
29	SMC3	chr14:65230198-65232170	SK-N-SH	brain:	n/a	chr14:65230815-65230823 chr14:65231660-65231674 chr14:65230649-65230663
30	MAZ	chr14:65231415-65231781	Hela-S3	cervix:	n/a	chr14:65231457-65231467
31	CTCF	chr14:65231383-65231777	A549	lung:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
32	RAD21	chr14:65231473-65231847	A549	lung:	n/a	chr14:65231656-65231675 chr14:65231658-65231670
33	CTCF	chr14:65231545-65231797	LNCaP	prostate:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
34	RAD21	chr14:65231476-65231825	HepG2	liver:	n/a	chr14:65231656-65231675 chr14:65231658-65231670
35	CTCF	chr14:65231620-65231770	AG04450	lung:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
36	RAD21	chr14:65231206-65231950	ECC-1	luminal epithelium:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
37	WRNIP1	chr14:65231604-65231768	GM12878	blood:	n/a	n/a
38	CTCF	chr14:65231620-65231770	GM12878	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
39	ZNF143	chr14:65231513-65231828	K562	blood:	n/a	n/a
40	RAD21	chr14:65231292-65231846	HCT-116	colon:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
41	CTCF	chr14:65231327-65231826	GM12892	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
42	RAD21	chr14:65231556-65231764	GM12878	blood:	n/a	chr14:65231656-65231675 chr14:65231658-65231670
43	BHLHE40	chr14:65231634-65231789	K562	blood:	n/a	n/a
44	CTCF	chr14:65231535-65231804	K562	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
45	SMC3	chr14:65231345-65231881	Hela-S3	cervix:	n/a	chr14:65231660-65231674
46	CTCF	chr14:65231538-65231802	ProgFib	skin:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
47	CTCF	chr14:65231481-65231851	K562	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
48	CTCF	chr14:65231517-65231819	MCF-7	breast:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
49	RAD21	chr14:65231281-65231796	MCF-7	breast:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
50	CTCF	chr14:65231497-65231774	SK-N-SH_RA	brain:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674

No.	Distal block	Cell Line	Cell type
1	chr14:65231094..65233914-chr14:65437401..65439254,2	MCF-7	breast:
2	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
3	chr14:65231019..65234002-chr14:65270043..65272180,2	K562	blood:
4	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
5	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
6	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
7	chr14:64969741..64971347-chr14:65231667..65233544,2	MCF-7	breast:
8	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
9	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000126822	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3356966	chr14:65230599-65234897	Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
6	chr14:65221800-65232200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
8	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:65228200-65231800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
11	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:65229200-65233600	Enhancers	HMEC	breast
13	chr14:65229400-65232200	Enhancers	Placenta	Placenta
14	chr14:65229600-65234000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:65229600-65234400	Weak transcription	Fetal Brain Female	brain
16	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
17	chr14:65229800-65232600	Weak transcription	K562	blood
18	chr14:65229800-65233200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:65229800-65233600	Weak transcription	Left Ventricle	heart
20	chr14:65230000-65232200	Genic enhancers	Fetal Muscle Leg	muscle
21	chr14:65230000-65233000	Enhancers	Hela-S3	cervix
22	chr14:65230200-65231800	Enhancers	Fetal Brain Male	brain
23	chr14:65230400-65231800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:65230600-65231800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:65230600-65231800	Enhancers	Esophagus	oesophagus
26	chr14:65230600-65237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:65230800-65232000	Enhancers	Pancreas	Pancrea
28	chr14:65231000-65232200	Bivalent Enhancer	HepG2	liver
29	chr14:65231000-65232400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:65231000-65232600	Weak transcription	Fetal Kidney	kidney
31	chr14:65231200-65231800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:65231200-65231800	Enhancers	Stomach Mucosa	stomach
33	chr14:65231200-65232200	Enhancers	Gastric	stomach
34	chr14:65231400-65231800	Flanking Active TSS	Colonic Mucosa	Colon
35	chr14:65231400-65233200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:65231600-65231800	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr14:65231600-65231800	Active TSS	Primary T cells from cord blood	blood
38	chr14:65231600-65231800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:65231600-65231800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:65231600-65231800	Enhancers	Brain Cingulate Gyrus	brain
41	chr14:65231600-65231800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr14:65231600-65231800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr14:65231600-65231800	Enhancers	Stomach Smooth Muscle	stomach
44	chr14:65231600-65232000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr14:65231600-65232200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:65231600-65232200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:65231600-65232200	Enhancers	Brain Hippocampus Middle	brain
48	chr14:65231600-65232200	Enhancers	Fetal Muscle Trunk	muscle
49	chr14:65231600-65232400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:65231600-65232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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