Variant report

Variant	esv3520196
Chromosome Location	chr14:24436112-24444010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:24443416-24443612	HepG2	liver:	n/a	n/a
2	BACH1	chr14:24439122-24439137	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr14:24438814-24439115	HepG2	liver:	n/a	n/a
4	CEBPD	chr14:24439025-24439361	HepG2	liver:	n/a	n/a
5	CHD2	chr14:24439126-24439200	GM12878	blood:	n/a	chr14:24439140-24439150
6	CTCF	chr14:24438642-24438741	GM13976	blood:	n/a	n/a
7	CTCF	chr14:24439058-24439117	Spleen_OC	spleen:	n/a	n/a
8	E2F6	chr14:24442431-24442737	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr14:24439119-24439288	K562	blood:	n/a	n/a
10	EBF1	chr14:24438433-24438849	GM12878	blood:	n/a	n/a
11	EBF1	chr14:24438510-24438735	GM12878	blood:	n/a	n/a
12	EP300	chr14:24443186-24443597	HepG2	liver:	n/a	n/a
13	EP300	chr14:24443248-24443618	HepG2	liver:	n/a	n/a
14	FOSL2	chr14:24436569-24437166	HepG2	liver:	n/a	n/a
15	FOSL2	chr14:24436384-24437168	HepG2	liver:	n/a	n/a
16	FOSL2	chr14:24437828-24439994	HepG2	liver:	n/a	chr14:24439561-24439570
17	FOSL2	chr14:24437768-24439484	HepG2	liver:	n/a	n/a
18	FOXA1	chr14:24443018-24443823	HepG2	liver:	n/a	n/a
19	FOXA1	chr14:24443181-24443778	HepG2	liver:	n/a	n/a
20	FOXA1	chr14:24443163-24443595	HepG2	liver:	n/a	n/a
21	FOXA1	chr14:24439558-24439767	HepG2	liver:	n/a	n/a
22	FOXA1	chr14:24436443-24437096	HepG2	liver:	n/a	n/a
23	FOXA1	chr14:24443180-24443772	HepG2	liver:	n/a	n/a
24	FOXA1	chr14:24438863-24439965	HepG2	liver:	n/a	n/a
25	FOXA1	chr14:24439430-24439910	HepG2	liver:	n/a	n/a
26	FOXA2	chr14:24443155-24443773	HepG2	liver:	n/a	n/a
27	FOXA2	chr14:24443205-24443678	HepG2	liver:	n/a	n/a
28	FOXA2	chr14:24439396-24439953	A549	lung:	n/a	n/a
29	FOXA2	chr14:24439317-24439993	A549	lung:	n/a	n/a
30	GATA2	chr14:24442265-24442449	K562	blood:	n/a	n/a
31	HDAC2	chr14:24438965-24439364	HepG2	liver:	n/a	n/a
32	HEY1	chr14:24438861-24439367	K562	blood:	n/a	n/a
33	HEY1	chr14:24438852-24439174	K562	blood:	n/a	n/a
34	HEY1	chr14:24438812-24439347	HepG2	liver:	n/a	n/a
35	HEY1	chr14:24437997-24439432	HepG2	liver:	n/a	n/a
36	HNF4A	chr14:24443266-24443590	HepG2	liver:	n/a	n/a
37	HNF4A	chr14:24443190-24443603	HepG2	liver:	n/a	n/a
38	IRF4	chr14:24438420-24438713	GM12878	blood:	n/a	n/a
39	IRF4	chr14:24435755-24436221	GM12878	blood:	n/a	n/a
40	IRF4	chr14:24438438-24438817	GM12878	blood:	n/a	n/a
41	IRF4	chr14:24435708-24436136	GM12878	blood:	n/a	n/a
42	JUND	chr14:24436807-24437147	HepG2	liver:	n/a	n/a
43	JUND	chr14:24437980-24439883	HepG2	liver:	n/a	chr14:24439561-24439570
44	JUND	chr14:24438221-24438504	HepG2	liver:	n/a	n/a
45	JUND	chr14:24438536-24439548	HepG2	liver:	n/a	n/a
46	MAX	chr14:24439089-24439304	K562	blood:	n/a	n/a
47	MAX	chr14:24438984-24439163	HepG2	liver:	n/a	n/a
48	MAX	chr14:24442429-24442753	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr14:24442430-24442691	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr14:24439123-24439301	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24439157-24439207	GM12878	blood:	n/a
2	chr14:24439430-24439480	NB4	blood:	n/a
3	chr14:24438909-24438959	H1-hESC	embryonic stem cell:	embryo
4	chr14:24438909-24438959	NT2-D1	testis:	n/a
5	chr14:24438909-24438959	PANC-1	pancreas:	n/a
6	chr14:24438136-24438186	AG04450	lung:	fetal
7	chr14:24438136-24438186	AG04449	skin:	fetal
8	chr14:24439157-24439207	HL-60	blood:	n/a
9	chr14:24439157-24439207	NHDF-neo	bronchial:	n/a
10	chr14:24439430-24439480	AG04449	skin:	fetal
11	chr14:24439430-24439480	CMK	blood:	n/a
12	chr14:24439430-24439480	HEK293	kidney:	embryo
13	chr14:24438136-24438186	AG09309	skin:	n/a
14	chr14:24438909-24438959	SK-N-SH	brain:	n/a
15	chr14:24439430-24439480	LNCaP	prostate:	n/a
16	chr14:24438909-24438959	CMK	blood:	n/a
17	chr14:24439430-24439480	HCT-116	colon:	n/a
18	chr14:24438136-24438186	SKMC	muscle:	n/a
19	chr14:24438136-24438186	GM06990	blood:	n/a
20	chr14:24439430-24439480	NT2-D1	testis:	n/a
21	chr14:24439157-24439207	A549	lung:	n/a
22	chr14:24438909-24438959	GM12878	blood:	n/a
23	chr14:24439157-24439207	SK-N-SH_RA	brain:	n/a
24	chr14:24438136-24438186	NB4	blood:	n/a
25	chr14:24438909-24438959	HMEC	breast:	n/a
26	chr14:24438136-24438186	MCF10A-Er-Src	breast:	n/a
27	chr14:24439430-24439480	HepG2	liver:	n/a
28	chr14:24438909-24438959	BJ	skin:	n/a
29	chr14:24438136-24438186	MCF-7	breast:	n/a
30	chr14:24439430-24439480	HPAEpiC	pulmonary alveolar:	n/a
31	chr14:24439430-24439480	GM06990	blood:	n/a
32	chr14:24438136-24438186	HUVEC	blood vessel:	n/a
33	chr14:24439157-24439207	HNPCEpiC	eye:	n/a
34	chr14:24439157-24439207	AG04450	lung:	fetal
35	chr14:24439430-24439480	AG10803	skin:	n/a
36	chr14:24439157-24439207	HRCEpiC	kidney:	n/a
37	chr14:24438909-24438959	A549	lung:	n/a
38	chr14:24438909-24438959	GM19239	blood:	n/a
39	chr14:24438136-24438186	HAEpiC	amniotic membrane:	n/a
40	chr14:24438136-24438186	AoSMC	blood vessel:	n/a
41	chr14:24439430-24439480	SAEC	small airway:	n/a
42	chr14:24439430-24439480	PANC-1	pancreas:	n/a
43	chr14:24439157-24439207	HRPEpiC	eye:	n/a
44	chr14:24438136-24438186	IMR90	lung:	fetal
45	chr14:24438909-24438959	RPTEC	kidney:	n/a
46	chr14:24439430-24439480	Caco-2	colon:	n/a
47	chr14:24439157-24439207	HUVEC	blood vessel:	n/a
48	chr14:24438136-24438186	SK-N-MC	brain:	n/a
49	chr14:24439430-24439480	PFSK-1	brain:	n/a
50	chr14:24439157-24439207	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
DHRS4L2	TF binding region
DHRS4L2	CpG island

Extended variants
information (count: 456 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566216565	chr14:24436112-24436113	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs71405820	chr14:24436130-24436131	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549679038	chr14:24436135-24436136	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559070578	chr14:24436221-24436222	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528104457	chr14:24436224-24436225	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs113819651	chr14:24436227-24436228	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551161279	chr14:24436232-24436233	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs28620370	chr14:24436234-24436235	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111644370	chr14:24436256-24436257	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375984037	chr14:24436270-24436271	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536807628	chr14:24436288-24436289	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550349868	chr14:24436294-24436295	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538375955	chr14:24436318-24436319	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs370745617	chr14:24436328-24436329	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs566301470	chr14:24436333-24436334	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536143284	chr14:24436357-24436358	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112882013	chr14:24436367-24436368	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs61119144	chr14:24436369-24436370	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs57522761	chr14:24436375-24436376	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs61129255	chr14:24436380-24436381	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs547603662	chr14:24436382-24436383	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs59595284	chr14:24436385-24436386	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs59485844	chr14:24436416-24436417	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs377709673	chr14:24436465-24436466	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572324083	chr14:24436475-24436476	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2332157	chr14:24436488-24436489	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112250322	chr14:24436489-24436490	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200393732	chr14:24436511-24436512	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs558244011	chr14:24436540-24436541	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs578138430	chr14:24436550-24436551	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543981375	chr14:24436552-24436553	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs563851416	chr14:24436586-24436587	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111764056	chr14:24436587-24436588	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113602606	chr14:24436609-24436610	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112855727	chr14:24436654-24436655	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542916647	chr14:24436659-24436660	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs113042027	chr14:24436679-24436680	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs528027434	chr14:24436699-24436700	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550969833	chr14:24436702-24436703	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs148043130	chr14:24436706-24436707	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530515256	chr14:24436713-24436714	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs376928781	chr14:24436720-24436721	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs567091470	chr14:24436736-24436737	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs146214706	chr14:24436798-24436799	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs75271114	chr14:24437042-24437043	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs61999774	chr14:24437123-24437124	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs61999775	chr14:24437149-24437150	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs61999776	chr14:24437167-24437168	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186858888	chr14:24437181-24437182	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs61999777	chr14:24437186-24437187	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24423600-24438800	Weak transcription	Lung	lung
2	chr14:24423600-24438800	Weak transcription	Ovary	ovary
3	chr14:24423800-24438200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:24423800-24438600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:24423800-24438600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:24423800-24438800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:24423800-24438800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:24423800-24438800	Weak transcription	Left Ventricle	heart
9	chr14:24423800-24438800	Weak transcription	Right Ventricle	heart
10	chr14:24423800-24438800	Weak transcription	Osteobl	bone
11	chr14:24424000-24437400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:24424000-24438200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:24424000-24438200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:24424000-24438800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:24424000-24438800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:24424000-24438800	Weak transcription	HSMM	muscle
17	chr14:24424000-24458000	Weak transcription	Primary T cells from cord blood	blood
18	chr14:24424200-24438200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:24424200-24438800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:24424200-24438800	Weak transcription	NHEK	skin
21	chr14:24424400-24436600	Weak transcription	Gastric	stomach
22	chr14:24424400-24438000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:24424400-24438600	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:24424400-24438800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:24424400-24438800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:24424400-24438800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:24424400-24438800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:24424400-24438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:24424400-24438800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:24424400-24438800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:24424400-24438800	Weak transcription	Colonic Mucosa	Colon
32	chr14:24424400-24438800	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:24424400-24438800	Weak transcription	Pancreas	Pancrea
34	chr14:24424400-24438800	Weak transcription	Spleen	Spleen
35	chr14:24424400-24438800	Weak transcription	HMEC	breast
36	chr14:24424800-24437600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:24424800-24439000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:24425600-24438800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:24425800-24438000	Weak transcription	HepG2	liver
40	chr14:24425800-24438800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:24426000-24438800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:24426800-24438600	Weak transcription	Adipose Nuclei	Adipose
43	chr14:24427800-24438800	Weak transcription	Fetal Intestine Large	intestine
44	chr14:24428000-24439200	Weak transcription	Liver	Liver
45	chr14:24428200-24438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:24428600-24438000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:24429400-24439000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:24429600-24438800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:24429600-24438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:24429600-24438800	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links