Variant report

Variant	esv3352179
Chromosome Location	chr14:65002234-65002829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr14:65002348-65002354	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:65002471-65002507	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr14:65002509-65002546	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65002445-65002495	HCM	heart:	n/a
2	chr14:65002445-65002495	GM06990	blood:	n/a
3	chr14:65002445-65002495	HEK293	kidney:	embryo
4	chr14:65002445-65002495	Caco-2	colon:	n/a
5	chr14:65002445-65002495	SKMC	muscle:	n/a
6	chr14:65002445-65002495	ProgFib	skin:	n/a
7	chr14:65002445-65002495	GM19239	blood:	n/a
8	chr14:65002445-65002495	T-47D	breast:	n/a
9	chr14:65002445-65002495	GM12892	blood:	n/a
10	chr14:65002445-65002495	MCF-7	breast:	n/a
11	chr14:65002445-65002495	NT2-D1	testis:	n/a
12	chr14:65002445-65002495	HNPCEpiC	eye:	n/a
13	chr14:65002445-65002495	Jurkat	blood:	n/a
14	chr14:65002445-65002495	MCF10A-Er-Src	breast:	n/a
15	chr14:65002445-65002495	AG09309	skin:	n/a
16	chr14:65002445-65002495	NHBE	bronchial:	n/a
17	chr14:65002445-65002495	HAEpiC	amniotic membrane:	n/a
18	chr14:65002445-65002495	RPTEC	kidney:	n/a
19	chr14:65002445-65002495	ovcar-3	ovarian:	n/a
20	chr14:65002445-65002495	PFSK-1	brain:	n/a
21	chr14:65002445-65002495	K562	blood:	n/a
22	chr14:65002445-65002495	HL-60	blood:	n/a
23	chr14:65002445-65002495	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:65002445-65002495	SK-N-SH_RA	brain:	n/a
25	chr14:65002445-65002495	HRE	kidney:	n/a
26	chr14:65002445-65002495	ECC-1	luminal epithelium:	n/a
27	chr14:65002445-65002495	H1-hESC	embryonic stem cell:	embryo
28	chr14:65002445-65002495	Hela-S3	cervix:	n/a
29	chr14:65002445-65002495	HEEpiC	esophagus:	n/a
30	chr14:65002445-65002495	HRPEpiC	eye:	n/a
31	chr14:65002445-65002495	NHDF-neo	bronchial:	n/a
32	chr14:65002445-65002495	HRCEpiC	kidney:	n/a
33	chr14:65002445-65002495	HCT-116	colon:	n/a
34	chr14:65002445-65002495	AG09319	gingival:	n/a
35	chr14:65002445-65002495	BJ	skin:	n/a
36	chr14:65002445-65002495	HIPEpiC	eye:	n/a
37	chr14:65002445-65002495	IMR90	lung:	fetal
38	chr14:65002445-65002495	CMK	blood:	n/a
39	chr14:65002445-65002495	LNCaP	prostate:	n/a
40	chr14:65002445-65002495	AG10803	skin:	n/a
41	chr14:65002445-65002495	NH-A	brain:	n/a
42	chr14:65002445-65002495	AG04450	lung:	fetal
43	chr14:65002445-65002495	HCF	heart:	n/a
44	chr14:65002445-65002495	AoSMC	blood vessel:	n/a
45	chr14:65002445-65002495	HMEC	breast:	n/a
46	chr14:65002445-65002495	U87	brain:	n/a
47	chr14:65002445-65002495	BE2_C	brain:	n/a
48	chr14:65002445-65002495	A549	lung:	n/a
49	chr14:65002445-65002495	PANC-1	pancreas:	n/a
50	chr14:65002445-65002495	PrEC	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:
2	chr14:64995191..64998249-chr14:64998660..65002269,3	K562	blood:
3	chr14:64969721..64971407-chr14:65001897..65003648,2	K562	blood:
4	chr14:64969193..64971407-chr14:65001217..65003397,2	K562	blood:

No data

Variant related genes	Relation type
HSPA2	TF binding region
ENSG00000259160	TF binding region
HSPA2	CpG island
ENSG00000259160	CpG island
ENSG00000089775	chromatin interactions
ENSG00000126804	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145160290	chr14:65002266-65002267	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540269399	chr14:65002269-65002270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7145155	chr14:65002273-65002274	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549505831	chr14:65002288-65002289	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs45532333	chr14:65002375-65002376	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530713425	chr14:65002433-65002434	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374785265	chr14:65002455-65002456	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574024578	chr14:65002476-65002477	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs187417725	chr14:65002507-65002508	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs542927232	chr14:65002508-65002509	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552037499	chr14:65002519-65002520	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550491551	chr14:65002546-65002547	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs75833933	chr14:65002547-65002548	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145824836	chr14:65002569-65002570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534941142	chr14:65002586-65002587	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373952253	chr14:65002595-65002596	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368471143	chr14:65002597-65002598	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371970863	chr14:65002598-65002599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376957033	chr14:65002599-65002600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs45469496	chr14:65002600-65002601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190390335	chr14:65002605-65002606	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554422875	chr14:65002620-65002621	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs45625140	chr14:65002635-65002636	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147557907	chr14:65002636-65002637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556744601	chr14:65002657-65002658	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531556709	chr14:65002661-65002662	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576488022	chr14:65002662-65002663	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545384602	chr14:65002672-65002673	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs45559537	chr14:65002700-65002701	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572601977	chr14:65002755-65002756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
Intracranial arachnoid cysts	20187927	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64974800-65006000	Weak transcription	Ovary	ovary
2	chr14:64976000-65006000	Weak transcription	Brain Germinal Matrix	brain
3	chr14:64978200-65006000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:64979200-65005800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:64982000-65005800	Weak transcription	Fetal Heart	heart
6	chr14:64987800-65005000	Weak transcription	Pancreas	Pancrea
7	chr14:64989200-65006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:64989800-65005800	Weak transcription	Right Ventricle	heart
9	chr14:64990200-65002400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:64990200-65003400	Weak transcription	HSMMtube	muscle
11	chr14:64990200-65003400	Weak transcription	NHLF	lung
12	chr14:64990200-65005800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:64990200-65005800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:64990200-65005800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:64990200-65006000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:64990200-65006000	Weak transcription	Aorta	Aorta
17	chr14:64990200-65006000	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:64990200-65006000	Weak transcription	Left Ventricle	heart
19	chr14:64990200-65006200	Weak transcription	Small Intestine	intestine
20	chr14:64990400-65003600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:64990400-65005800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:64990400-65005800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:64990400-65005800	Weak transcription	Adipose Nuclei	Adipose
24	chr14:64990400-65005800	Weak transcription	Fetal Kidney	kidney
25	chr14:64990400-65005800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:64990400-65005800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:64990400-65006000	Weak transcription	Fetal Intestine Large	intestine
28	chr14:64990600-65005800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:64990800-65005800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:64991000-65005600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:64991000-65005600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:64991400-65003200	Weak transcription	NHDF-Ad	bronchial
33	chr14:64992000-65005800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:64992200-65005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:64992400-65003400	Weak transcription	A549	lung
36	chr14:64992400-65003600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:64993200-65003400	Weak transcription	Hela-S3	cervix
38	chr14:64993400-65005800	Weak transcription	NH-A	brain
39	chr14:64993400-65005800	Weak transcription	NHEK	skin
40	chr14:64993600-65006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:64993800-65003000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:64993800-65003200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:64993800-65003200	Weak transcription	Placenta	Placenta
44	chr14:64993800-65005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:64993800-65005600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:64993800-65005800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:64993800-65005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:64993800-65005800	Weak transcription	Fetal Intestine Small	intestine
49	chr14:64993800-65005800	Weak transcription	GM12878-XiMat	blood
50	chr14:64993800-65006000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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