Variant report

Variant	esv988353
Chromosome Location	chr14:24570851-24575572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr14:24574190-24574504	K562	blood:	n/a	n/a
2	CEBPB	chr14:24575233-24575366	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr14:24571459-24572130	HepG2	liver:	n/a	n/a
4	HEY1	chr14:24573889-24574611	HepG2	liver:	n/a	n/a
5	HEY1	chr14:24569766-24571347	HepG2	liver:	n/a	n/a
6	HEY1	chr14:24574626-24575792	HepG2	liver:	n/a	n/a
7	KAP1	chr14:24573958-24574541	K562	blood:	n/a	n/a
8	KAP1	chr14:24574097-24574675	HEK293	kidney:	n/a	n/a
9	MAFK	chr14:24575546-24575821	HepG2	liver:	n/a	n/a
10	MAFK	chr14:24575542-24575835	HepG2	liver:	n/a	n/a
11	MAFK	chr14:24571759-24571959	HepG2	liver:	n/a	n/a
12	MAFK	chr14:24571741-24572018	HepG2	liver:	n/a	n/a
13	MYBL2	chr14:24574946-24575821	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:24571615-24571968	HCT-116	colon:	n/a	n/a
15	POLR2A	chr14:24571743-24571795	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:24573294-24573390	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr14:24571896-24571936	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:24572307-24572547	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:24573492-24573499	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:24572308-24572541	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:24575310-24575399	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr14:24572936-24573266	K562	blood:	n/a	n/a
23	POLR2A	chr14:24572154-24572176	K562	blood:	n/a	n/a
24	POLR2A	chr14:24571616-24571738	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:24573874-24574679	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:24574713-24575864	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:24570558-24570903	HCT-116	colon:	n/a	n/a
28	POLR2A	chr14:24572896-24573221	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr14:24567257-24575750	K562	blood:	n/a	n/a
30	POLR2A	chr14:24574539-24574735	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:24573877-24574883	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:24573502-24574301	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:24575092-24575192	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr14:24575258-24575679	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:24573689-24574457	K562	blood:	n/a	n/a
36	POLR2A	chr14:24574021-24574059	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr14:24571607-24572125	K562	blood:	n/a	n/a
38	POLR2A	chr14:24575250-24575287	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr14:24574805-24575025	K562	blood:	n/a	n/a
40	POLR2A	chr14:24566781-24575895	HepG2	liver:	n/a	n/a
41	POLR2A	chr14:24574617-24574903	HCT-116	colon:	n/a	n/a
42	POLR2A	chr14:24572820-24572940	A549	lung:	n/a	n/a
43	POLR2A	chr14:24572331-24572534	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:24572978-24573159	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:24573965-24574314	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:24574071-24574077	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr14:24573865-24574100	HCT-116	colon:	n/a	n/a
48	POLR2A	chr14:24571677-24573413	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:24573425-24573450	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr14:24570245-24570877	PBDE	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24572731..24575018-chr14:24581882..24584441,3	K562	blood:
2	chr14:24519001..24521647-chr14:24574102..24575661,2	MCF-7	breast:
3	chr14:24520169..24522570-chr14:24571507..24573400,2	MCF-7	breast:
4	chr14:24572111..24574244-chr14:24608030..24610822,2	MCF-7	breast:
5	chr14:24570842..24573550-chr14:24657440..24659369,2	MCF-7	breast:
6	chr14:24527348..24529329-chr14:24572772..24574744,2	K562	blood:
7	chr14:24575156..24579604-chr14:24581629..24585415,10	K562	blood:
8	chr14:24572871..24573418-chr5:179321477..179322120,2	NB4	blood:
9	chr14:24538248..24540912-chr14:24574170..24576704,2	K562	blood:

No data

Variant related genes	Relation type
PCK2	TF binding region
ENSG00000100897	chromatin interactions
ENSG00000100908	chromatin interactions
ENSG00000100884	chromatin interactions
ENSG00000186648	chromatin interactions
ENSG00000196497	chromatin interactions
ENSG00000129535	chromatin interactions
ENSG00000259321	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193158366	chr14:24570854-24570855	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs35249757	chr14:24570871-24570872	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573508266	chr14:24570897-24570898	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536251206	chr14:24570898-24570899	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552757707	chr14:24570930-24570931	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185014915	chr14:24570956-24570957	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs188627370	chr14:24570965-24570966	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372094369	chr14:24571054-24571055	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148642074	chr14:24571060-24571061	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575550966	chr14:24571090-24571091	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544175820	chr14:24571117-24571118	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547018752	chr14:24571127-24571128	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191949003	chr14:24571161-24571162	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs568732808	chr14:24571209-24571210	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529232518	chr14:24571217-24571218	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543024490	chr14:24571230-24571231	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559394412	chr14:24571254-24571255	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558567022	chr14:24571280-24571281	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184087972	chr14:24571301-24571302	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188427472	chr14:24571359-24571360	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368186163	chr14:24571365-24571366	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs142045881	chr14:24571369-24571370	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531134953	chr14:24571492-24571493	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs370295753	chr14:24571493-24571494	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146666245	chr14:24571513-24571514	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs567962678	chr14:24571523-24571524	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs116558989	chr14:24571595-24571596	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572353926	chr14:24571742-24571743	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs2332133	chr14:24571744-24571745	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs111287614	chr14:24571765-24571766	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs374558828	chr14:24571804-24571805	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs538727819	chr14:24571814-24571815	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs557357563	chr14:24571818-24571819	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs367813502	chr14:24571861-24571862	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs558732529	chr14:24571889-24571890	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs916154	chr14:24571911-24571912	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs367927444	chr14:24571918-24571919	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544405700	chr14:24571919-24571920	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371591685	chr14:24571931-24571932	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs180748619	chr14:24571938-24571939	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371724693	chr14:24571952-24571953	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374717926	chr14:24571966-24571967	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs139687683	chr14:24571977-24571978	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200437491	chr14:24571994-24571995	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371329992	chr14:24571995-24571996	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376631075	chr14:24572008-24572009	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559309673	chr14:24572012-24572013	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370631813	chr14:24572013-24572014	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs200768361	chr14:24572027-24572028	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369939667	chr14:24572030-24572031	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24564200-24575200	Weak transcription	Aorta	Aorta
2	chr14:24564800-24571600	Weak transcription	Small Intestine	intestine
3	chr14:24564800-24582600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:24565000-24573000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:24565000-24575200	Weak transcription	HUVEC	blood vessel
6	chr14:24565000-24578000	Weak transcription	Brain Anterior Caudate	brain
7	chr14:24565000-24582600	Weak transcription	HSMM	muscle
8	chr14:24565200-24571000	Strong transcription	NHEK	skin
9	chr14:24565200-24571600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:24565200-24572800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:24565200-24573000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:24565200-24574000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:24565200-24575000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:24565200-24576000	Weak transcription	Fetal Kidney	kidney
15	chr14:24565200-24576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:24565200-24577800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:24565200-24578000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:24565200-24578000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:24565200-24578000	Weak transcription	Brain Angular Gyrus	brain
20	chr14:24565200-24578000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:24565200-24578000	Weak transcription	Hela-S3	cervix
22	chr14:24565200-24578000	Weak transcription	NHDF-Ad	bronchial
23	chr14:24565200-24582600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:24565200-24582600	Weak transcription	Left Ventricle	heart
25	chr14:24565800-24574200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr14:24565800-24574200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:24565800-24574400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:24566000-24571000	Strong transcription	Primary B cells from cord blood	blood
29	chr14:24566000-24571000	Strong transcription	Fetal Stomach	stomach
30	chr14:24566000-24572600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:24566000-24572800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:24566000-24573200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:24566000-24573600	Genic enhancers	Liver	Liver
34	chr14:24566000-24574200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:24566200-24572800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:24566200-24573200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:24566200-24573400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr14:24566200-24573800	Strong transcription	Dnd41	blood
39	chr14:24566200-24574000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:24566200-24574400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:24566400-24574000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:24566400-24575000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr14:24566800-24573200	Strong transcription	Spleen	Spleen
44	chr14:24567000-24573600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:24567000-24574000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:24567200-24571000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:24567200-24572800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr14:24567200-24573400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:24567200-24573400	Strong transcription	Primary T cells from cord blood	blood
50	chr14:24567200-24573600	Strong transcription	Colonic Mucosa	Colon

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