Variant report

Variant	esv3340792
Chromosome Location	chr14:39601226-39603774
allele	n/a
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	CEBPB	chr14:39602944-39603187	MCF-7	breast:	n/a	chr14:39603053-39603064
2	CEBPB	chr14:39602951-39603136	HepG2	liver:	n/a	chr14:39603053-39603064
3	CEBPB	chr14:39602904-39603192	K562	blood:	n/a	chr14:39603053-39603064
4	CEBPB	chr14:39602903-39603202	Hela-S3	cervix:	n/a	chr14:39603053-39603064
5	CEBPB	chr14:39602884-39603201	HepG2	liver:	n/a	chr14:39603053-39603064
6	CEBPB	chr14:39602955-39603211	A549	lung:	n/a	chr14:39603053-39603064
7	CTCF	chr14:39603227-39603299	LNCaP	prostate:	n/a	n/a
8	IRF1	chr14:39602703-39602727	K562	blood:	n/a	n/a
9	POLR2A	chr14:39603262-39603371	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr14:39603177-39603293	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:39603084-39603259	ProgFib	skin:	n/a	n/a
12	POLR2A	chr14:39603517-39603579	ProgFib	skin:	n/a	n/a
13	POLR2A	chr14:39603153-39603160	HepG2	liver:	n/a	n/a
14	YY1	chr14:39601689-39601967	H1-hESC	embryonic stem cell:	n/a	chr14:39601843-39601855
15	YY1	chr14:39601719-39601891	GM12891	blood:	n/a	chr14:39601843-39601855
16	YY1	chr14:39601723-39601966	GM12878	blood:	n/a	chr14:39601843-39601855
17	ZNF384	chr14:39601839-39601965	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39602771..39604896-chr14:39637781..39640211,2	MCF-7	breast:

Variant related genes	Relation type
GEMIN2	TF binding region
ENSG00000182400	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371815583	chr14:39601268-39601269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374805233	chr14:39601273-39601274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377684511	chr14:39601307-39601308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549576011	chr14:39601349-39601350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571340915	chr14:39601382-39601383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370382753	chr14:39601412-39601413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538222487	chr14:39601416-39601417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35615492	chr14:39601423-39601424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567906576	chr14:39601457-39601458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536926068	chr14:39601505-39601506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189348395	chr14:39601506-39601507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569918811	chr14:39601508-39601509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539048686	chr14:39601521-39601522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566813177	chr14:39601554-39601555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572195693	chr14:39601563-39601564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533259508	chr14:39601577-39601578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554319115	chr14:39601616-39601617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61999436	chr14:39601636-39601637	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138874707	chr14:39601654-39601655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67968129	chr14:39601658-39601659	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576716683	chr14:39601667-39601668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372747296	chr14:39601724-39601725	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559125660	chr14:39601726-39601727	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528192925	chr14:39601738-39601739	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs180984836	chr14:39601799-39601800	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs74243919	chr14:39601870-39601871	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200743125	chr14:39601890-39601891	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs67654055	chr14:39601891-39601892	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs144040570	chr14:39601924-39601925	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs61999437	chr14:39602021-39602022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188859185	chr14:39602028-39602029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550181858	chr14:39602031-39602032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200477101	chr14:39602080-39602081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545370896	chr14:39602084-39602085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570335086	chr14:39602151-39602152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67749459	chr14:39602180-39602181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9672085	chr14:39602204-39602205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs185930375	chr14:39602206-39602207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9672075	chr14:39602212-39602213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373382314	chr14:39602214-39602215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111744119	chr14:39602225-39602226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9672086	chr14:39602230-39602231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28701960	chr14:39602232-39602233	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565762483	chr14:39602234-39602235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563229552	chr14:39602247-39602248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530543430	chr14:39602248-39602249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200569267	chr14:39602260-39602261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4290398	chr14:39602294-39602295	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs71435607	chr14:39602304-39602305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71130821	chr14:39602307-39602308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
6	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
9	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
10	chr14:39584600-39603600	Weak transcription	K562	blood
11	chr14:39584600-39604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:39586600-39610600	Strong transcription	HepG2	liver
21	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:39587600-39607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:39588000-39602000	Strong transcription	Fetal Muscle Leg	muscle
25	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
26	chr14:39589200-39604800	Weak transcription	HSMMtube	muscle
27	chr14:39589200-39609200	Weak transcription	Gastric	stomach
28	chr14:39589200-39610000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
31	chr14:39589600-39603000	Weak transcription	NHEK	skin
32	chr14:39591200-39603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:39591800-39606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:39592400-39603600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:39592600-39603000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:39592600-39603800	Weak transcription	NHDF-Ad	bronchial
37	chr14:39592600-39605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:39592600-39622200	Weak transcription	Right Ventricle	heart
39	chr14:39592800-39603000	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:39592800-39603000	Weak transcription	HUVEC	blood vessel
41	chr14:39592800-39603800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:39592800-39606600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:39592800-39607400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:39592800-39618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:39592800-39626600	Weak transcription	NHLF	lung
46	chr14:39593400-39604800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:39593600-39603200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:39594000-39603000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:39594000-39603000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:39594000-39620800	Weak transcription	Hela-S3	cervix

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