Variant report

Variant	rs571885975
Chromosome Location	chr14:65231493-65231494
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	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	CHD2	chr14:65231364-65231732	GM12878	blood:	n/a	n/a
4	MYC	chr14:65231109-65231974	A549	lung:	n/a	chr14:65231457-65231467
5	CTCF	chr14:65231433-65231837	NHEK	skin:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
6	JUN	chr14:65231370-65231594	H1-hESC	embryonic stem cell:	n/a	chr14:65231504-65231513
7	E2F6	chr14:65231222-65231790	A549	lung:	n/a	chr14:65231460-65231470
8	MAX	chr14:65231169-65231947	MCF-7	breast:	n/a	chr14:65231457-65231467
9	CTCF	chr14:65231492-65231830	Spleen_OC	spleen:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
10	RAD21	chr14:65231463-65231856	Hela-S3	cervix:	n/a	chr14:65231656-65231675 chr14:65231658-65231670
11	RAD21	chr14:65231397-65231778	H1-hESC	embryonic stem cell:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
12	RAD21	chr14:65231161-65231810	A549	lung:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
13	SP1	chr14:65231288-65231933	A549	lung:	n/a	chr14:65231553-65231560 chr14:65231463-65231472
14	BCL3	chr14:65231224-65231747	A549	lung:	n/a	n/a
15	RCOR1	chr14:65231429-65231610	GM12878	blood:	n/a	n/a
16	MYC	chr14:65231413-65231528	MCF-7	breast:	n/a	chr14:65231457-65231467
17	CTCF	chr14:65231461-65231744	K562	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
18	CTCF	chr14:65231412-65231951	K562	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
19	RAD21	chr14:65231343-65231907	A549	lung:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
20	RAD21	chr14:65231091-65231865	IMR90	lung:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
21	RAD21	chr14:65231335-65231906	ECC-1	luminal epithelium:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
22	SMC3	chr14:65230198-65232170	SK-N-SH	brain:	n/a	chr14:65230815-65230823 chr14:65231660-65231674 chr14:65230649-65230663
23	MAZ	chr14:65231415-65231781	Hela-S3	cervix:	n/a	chr14:65231457-65231467
24	CTCF	chr14:65231383-65231777	A549	lung:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
25	RAD21	chr14:65231473-65231847	A549	lung:	n/a	chr14:65231656-65231675 chr14:65231658-65231670
26	RAD21	chr14:65231476-65231825	HepG2	liver:	n/a	chr14:65231656-65231675 chr14:65231658-65231670
27	RAD21	chr14:65231206-65231950	ECC-1	luminal epithelium:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
28	GTF2F1	chr14:65231482-65231718	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr14:65231292-65231846	HCT-116	colon:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
30	CTCF	chr14:65231379-65231746	T-47D	breast:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
31	CTCF	chr14:65231327-65231826	GM12892	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
32	SMC3	chr14:65231345-65231881	Hela-S3	cervix:	n/a	chr14:65231660-65231674
33	SIN3A	chr14:65231066-65231741	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr14:65231472-65231621	HepG2	liver:	n/a	n/a
35	CTCF	chr14:65231466-65231733	T-47D	breast:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
36	MYC	chr14:65231387-65231740	H1-hESC	embryonic stem cell:	n/a	chr14:65231457-65231467
37	YY1	chr14:65231478-65231759	GM12891	blood:	n/a	n/a
38	CTCF	chr14:65231481-65231851	K562	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
39	RAD21	chr14:65231281-65231796	MCF-7	breast:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
40	ZNF143	chr14:65231479-65231853	GM12878	blood:	n/a	n/a
41	MAX	chr14:65230191-65231976	A549	lung:	n/a	chr14:65230606-65230615 chr14:65231457-65231467 chr14:65230607-65230614 chr14:65230606-65230616 chr14:65230605-65230616
42	MAX	chr14:65230255-65231909	A549	lung:	n/a	chr14:65230606-65230615 chr14:65231457-65231467 chr14:65230607-65230614 chr14:65230606-65230616 chr14:65230605-65230616
43	RAD21	chr14:65231443-65231766	SK-N-SH_RA	brain:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
44	CTCF	chr14:65230293-65232011	A549	lung:	n/a	chr14:65230642-65230663 chr14:65231658-65231676 chr14:65230647-65230665 chr14:65231660-65231673 chr14:65231653-65231674
45	CTCF	chr14:65231458-65231753	A549	lung:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
46	POLR2A	chr14:65231301-65231814	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr14:65231480-65231630	WI-38	lung:	n/a	n/a
48	RAD21	chr14:65231446-65231819	GM12878	blood:	n/a	chr14:65231656-65231675 chr14:65231449-65231463 chr14:65231658-65231670
49	YY1	chr14:65231416-65231752	A549	lung:	n/a	n/a
50	RAD21	chr14:65226715-65232277	SK-N-SH	brain:	n/a	chr14:65226775-65226787 chr14:65228771-65228784 chr14:65231656-65231675 chr14:65228769-65228783 chr14:65229999-65230012 chr14:65230645-65230664 chr14:65230007-65230020 chr14:65231449-65231463 chr14:65227072-65227091 chr14:65231658-65231670 chr14:65228012-65228025 chr14:65229182-65229195

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	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
6	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
7	chr14:65231204..65233670-chr14:65243872..65245658,2	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
ENSG00000139998	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126822	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:119 , 50 per page) page: 1 2 3

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	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:65221400-65231600	Enhancers	Spleen	Spleen
7	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
9	chr14:65221800-65232200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:65222200-65231600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:65222600-65231600	Enhancers	Fetal Heart	heart
12	chr14:65223600-65231600	Enhancers	Ovary	ovary
13	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
14	chr14:65227400-65231600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:65227600-65231600	Enhancers	Fetal Lung	lung
16	chr14:65227600-65231600	Enhancers	Fetal Thymus	thymus
17	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:65227800-65231600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:65228200-65231600	Enhancers	HUVEC	blood vessel
20	chr14:65228200-65231800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:65228400-65231600	Enhancers	Primary hematopoietic stem cells	blood
22	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
23	chr14:65228800-65231600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr14:65228800-65231600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:65228800-65231600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:65229200-65231600	Enhancers	NH-A	brain
28	chr14:65229200-65233600	Enhancers	HMEC	breast
29	chr14:65229400-65232200	Enhancers	Placenta	Placenta
30	chr14:65229600-65231600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:65229600-65231600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:65229600-65234000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:65229600-65234400	Weak transcription	Fetal Brain Female	brain
34	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
35	chr14:65229800-65232600	Weak transcription	K562	blood
36	chr14:65229800-65233200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:65229800-65233600	Weak transcription	Left Ventricle	heart
38	chr14:65230000-65232200	Genic enhancers	Fetal Muscle Leg	muscle
39	chr14:65230000-65233000	Enhancers	Hela-S3	cervix
40	chr14:65230200-65231600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr14:65230200-65231800	Enhancers	Fetal Brain Male	brain
42	chr14:65230400-65231600	Enhancers	Duodenum Mucosa	Duodenum
43	chr14:65230400-65231800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:65230600-65231600	Enhancers	Adipose Nuclei	Adipose
45	chr14:65230600-65231600	Genic enhancers	Right Ventricle	heart
46	chr14:65230600-65231800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:65230600-65231800	Enhancers	Esophagus	oesophagus
48	chr14:65230600-65237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:65230800-65231600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:65230800-65231600	Enhancers	Liver	Liver

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