Variant report

Variant	nsv564934
Chromosome Location	chr14:65706758-65712872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 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	chr14:65709002-65709879	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:65710400-65710925	HepG2	liver:	n/a	n/a
3	ATF1	chr14:65710711-65711187	K562	blood:	n/a	n/a
4	BHLHE40	chr14:65710667-65710821	K562	blood:	n/a	n/a
5	CBX3	chr14:65710649-65711151	K562	blood:	n/a	n/a
6	CCNT2	chr14:65710879-65711079	K562	blood:	n/a	n/a
7	CEBPB	chr14:65709159-65709978	A549	lung:	n/a	chr14:65709485-65709498
8	CEBPB	chr14:65709211-65709840	A549	lung:	n/a	chr14:65709485-65709498
9	CEBPB	chr14:65709314-65709904	HepG2	liver:	n/a	chr14:65709485-65709498
10	CEBPB	chr14:65711045-65711075	A549	lung:	n/a	n/a
11	CEBPB	chr14:65709274-65709883	A549	lung:	n/a	chr14:65709485-65709498
12	CHD2	chr14:65710478-65710573	HepG2	liver:	n/a	n/a
13	E2F6	chr14:65710351-65711022	A549	lung:	n/a	n/a
14	ELF1	chr14:65710721-65711011	HepG2	liver:	n/a	chr14:65710896-65710909
15	ELF1	chr14:65710706-65711068	K562	blood:	n/a	chr14:65710896-65710909
16	EP300	chr14:65709336-65709981	A549	lung:	n/a	n/a
17	EP300	chr14:65709302-65709945	HepG2	liver:	n/a	n/a
18	EP300	chr14:65710372-65710896	HepG2	liver:	n/a	n/a
19	EP300	chr14:65709449-65709872	HepG2	liver:	n/a	n/a
20	EP300	chr14:65710274-65710806	HepG2	liver:	n/a	n/a
21	EP300	chr14:65709324-65710070	MCF-7	breast:	n/a	n/a
22	EP300	chr14:65709213-65709978	A549	lung:	n/a	n/a
23	EP300	chr14:65709313-65709902	HepG2	liver:	n/a	n/a
24	EP300	chr14:65710583-65710733	HepG2	liver:	n/a	n/a
25	EP300	chr14:65710661-65711144	K562	blood:	n/a	n/a
26	ESR1	chr14:65709534-65709808	T-47D	breast:	n/a	n/a
27	FOS	chr14:65710347-65711245	HUVEC	blood vessel:	n/a	n/a
28	FOS	chr14:65709336-65709803	HUVEC	blood vessel:	n/a	n/a
29	FOSL2	chr14:65709339-65709763	A549	lung:	n/a	n/a
30	FOSL2	chr14:65709407-65709918	HepG2	liver:	n/a	n/a
31	FOSL2	chr14:65709458-65709898	HepG2	liver:	n/a	n/a
32	FOSL2	chr14:65710388-65710975	A549	lung:	n/a	n/a
33	FOSL2	chr14:65710484-65710785	A549	lung:	n/a	n/a
34	FOSL2	chr14:65709012-65709997	A549	lung:	n/a	n/a
35	FOXA1	chr14:65709392-65709968	HepG2	liver:	n/a	n/a
36	FOXA1	chr14:65709424-65709868	HepG2	liver:	n/a	n/a
37	FOXA1	chr14:65710403-65710848	T-47D	breast:	n/a	n/a
38	FOXA1	chr14:65709494-65709922	T-47D	breast:	n/a	n/a
39	FOXA1	chr14:65710375-65710821	HepG2	liver:	n/a	n/a
40	FOXA1	chr14:65710385-65710939	HepG2	liver:	n/a	n/a
41	FOXA1	chr14:65709370-65709942	HepG2	liver:	n/a	n/a
42	FOXA1	chr14:65709361-65710059	HepG2	liver:	n/a	n/a
43	FOXA1	chr14:65708970-65709277	HepG2	liver:	n/a	n/a
44	FOXA1	chr14:65710373-65710872	HepG2	liver:	n/a	n/a
45	FOXA1	chr14:65710417-65710810	T-47D	breast:	n/a	n/a
46	FOXA2	chr14:65710354-65710997	A549	lung:	n/a	n/a
47	FOXA2	chr14:65710412-65710803	HepG2	liver:	n/a	n/a
48	FOXA2	chr14:65709321-65710022	A549	lung:	n/a	n/a
49	FOXA2	chr14:65708847-65709892	HepG2	liver:	n/a	n/a
50	FOXA2	chr14:65709428-65709945	HepG2	liver:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65708249..65716123-chr14:65876687..65882798,15	MCF-7	breast:
2	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
3	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:
4	chr14:65709860..65711374-chr14:65803916..65806781,2	MCF-7	breast:
5	chr14:65711767..65715817-chr14:65877100..65880952,4	MCF-7	breast:
6	chr14:65707546..65709332-chr14:65714126..65717111,2	K562	blood:
7	chr14:65687275..65689393-chr14:65708965..65710587,2	MCF-7	breast:
8	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
9	chr14:65707878..65709895-chr14:65801423..65803291,2	MCF-7	breast:
10	chr14:65710525..65712418-chr14:65882853..65884868,2	MCF-7	breast:
11	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:
12	chr14:65630625..65634047-chr14:65708648..65711135,3	MCF-7	breast:
13	chr14:65708443..65711390-chr14:65727270..65732025,4	MCF-7	breast:
14	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
15	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:
16	chr14:65583338..65585299-chr14:65708352..65712057,3	MCF-7	breast:
17	chr14:65696604..65698657-chr14:65706204..65708336,3	K562	blood:
18	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
19	chr14:65703192..65707325-chr14:65876761..65880324,6	MCF-7	breast:
20	chr14:65691185..65703550-chr14:65706694..65715001,23	MCF-7	breast:
21	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-2	chr14:65708499-65709934	XLOC_011054

No data

Variant related genes	Relation type
ENSG00000258878	TF binding region
ENSG00000255002	chromatin interactions
ENSG00000266740	chromatin interactions
ENSG00000258878	chromatin interactions
ENSG00000033170	chromatin interactions
EIF2C1	miRNA target sites

Extended variants
information (count: 291 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1270077	chr14:65706758-65706759	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs56231407	chr14:65706761-65706762	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563615079	chr14:65706769-65706770	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181163068	chr14:65706780-65706781	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552083082	chr14:65706791-65706792	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149099487	chr14:65706822-65706823	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528362139	chr14:65706837-65706838	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185195405	chr14:65706888-65706889	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs143189521	chr14:65706892-65706893	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200909189	chr14:65706925-65706926	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572920354	chr14:65707014-65707015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189619132	chr14:65707021-65707022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151186317	chr14:65707025-65707026	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374475024	chr14:65707034-65707035	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140321481	chr14:65707050-65707051	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115723646	chr14:65707053-65707054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146951913	chr14:65707058-65707059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572543441	chr14:65707066-65707067	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138048619	chr14:65707114-65707115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183962505	chr14:65707124-65707125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373113951	chr14:65707187-65707188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530313852	chr14:65707196-65707197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575110151	chr14:65707202-65707203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201538644	chr14:65707205-65707206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543443642	chr14:65707217-65707218	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563747042	chr14:65707301-65707302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188912090	chr14:65707302-65707303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541129576	chr14:65707364-65707365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559562370	chr14:65707389-65707390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574949828	chr14:65707403-65707404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548440258	chr14:65707405-65707406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370591072	chr14:65707416-65707417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs61170796	chr14:65707449-65707450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550261794	chr14:65707484-65707485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574395324	chr14:65707494-65707495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376830363	chr14:65707505-65707506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145819438	chr14:65707507-65707508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138384983	chr14:65707510-65707511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566255848	chr14:65707511-65707512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545045499	chr14:65707539-65707540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554782734	chr14:65707609-65707610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575028520	chr14:65707613-65707614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78085535	chr14:65707622-65707623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557031585	chr14:65707728-65707729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191626813	chr14:65707766-65707767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562879504	chr14:65707820-65707821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546247790	chr14:65707845-65707846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559870713	chr14:65707862-65707863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79117253	chr14:65707901-65707902	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542044386	chr14:65707919-65707920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:65701200-65707000	Enhancers	Placenta	Placenta
5	chr14:65703000-65706800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:65703000-65707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:65703000-65707000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:65703000-65707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:65703200-65706800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:65703200-65706800	Enhancers	NHLF	lung
11	chr14:65703200-65706800	Enhancers	Osteobl	bone
12	chr14:65703200-65707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:65703200-65707000	Enhancers	NHDF-Ad	bronchial
14	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
15	chr14:65703400-65706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:65703400-65706800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:65703400-65707000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
19	chr14:65703600-65706800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:65703600-65707000	Enhancers	Brain Anterior Caudate	brain
21	chr14:65703600-65708400	Enhancers	Brain Substantia Nigra	brain
22	chr14:65704000-65706800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:65704000-65707200	Enhancers	HUVEC	blood vessel
24	chr14:65704200-65706800	Enhancers	Hela-S3	cervix
25	chr14:65704400-65707000	Enhancers	Colonic Mucosa	Colon
26	chr14:65704600-65707000	Enhancers	Brain Hippocampus Middle	brain
27	chr14:65704600-65707000	Flanking Active TSS	HepG2	liver
28	chr14:65704800-65710400	Weak transcription	Small Intestine	intestine
29	chr14:65705000-65710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:65705200-65706800	Enhancers	NH-A	brain
32	chr14:65705400-65706800	Enhancers	A549	lung
33	chr14:65705800-65706800	Enhancers	Brain Germinal Matrix	brain
34	chr14:65705800-65707000	Enhancers	Brain Cingulate Gyrus	brain
35	chr14:65705800-65707000	Enhancers	Right Ventricle	heart
36	chr14:65705800-65707000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr14:65706000-65706800	Enhancers	Brain Angular Gyrus	brain
38	chr14:65706000-65707000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:65706000-65710600	Weak transcription	NHEK	skin
40	chr14:65706200-65706800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr14:65706400-65706800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:65706400-65707000	Enhancers	Adipose Nuclei	Adipose
43	chr14:65706400-65707000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr14:65706400-65707000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr14:65706400-65707000	Enhancers	Stomach Mucosa	stomach
46	chr14:65706400-65709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:65706400-65710000	Weak transcription	Gastric	stomach
48	chr14:65706400-65710000	Weak transcription	K562	blood
49	chr14:65706600-65707000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:65706600-65707000	Enhancers	Duodenum Mucosa	Duodenum

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