Variant report

Variant	esv1815452
Chromosome Location	chr14:67862371-67866671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67863452-67863614	HepG2	liver:	n/a	chr14:67863519-67863535
2	CEBPB	chr14:67863376-67863633	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr14:67863458-67863700	IMR90	lung:	n/a	n/a
4	CTCF	chr14:67862420-67862570	HepG2	liver:	n/a	n/a
5	CTCF	chr14:67862460-67862610	HCFaa	heart:	n/a	n/a
6	CTCF	chr14:67866009-67866076	GM13976	blood:	n/a	n/a
7	FOS	chr14:67862411-67862919	HUVEC	blood vessel:	n/a	chr14:67862741-67862752
8	GATA2	chr14:67862463-67862883	HUVEC	blood vessel:	n/a	n/a
9	JUN	chr14:67862561-67862915	HUVEC	blood vessel:	n/a	n/a
10	MYC	chr14:67862636-67862805	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr14:67865941-67866001	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr14:67865796-67866532	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:67862412-67862936	HUVEC	blood vessel:	n/a	n/a
14	POU2F2	chr14:67865903-67866546	GM12891	blood:	n/a	n/a
15	STAT3	chr14:67862666-67862729	MCF10A-Er-Src	breast:	n/a	n/a
16	TEAD4	chr14:67863271-67863665	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr14:67863305-67863657	ECC-1	luminal epithelium:	n/a	n/a
18	TEAD4	chr14:67863247-67863662	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67858454..67860962-chr14:67864794..67867141,2	MCF-7	breast:
2	chr14:67857879..67859653-chr14:67862774..67864465,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLEK2	TF binding region
ENSG00000100558	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs3818468	chr14:67862371-67862372	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149617556	chr14:67862379-67862380	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs117607358	chr14:67862397-67862398	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538593132	chr14:67862411-67862412	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556794880	chr14:67862423-67862424	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373080090	chr14:67862449-67862450	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561016252	chr14:67862496-67862497	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs575235141	chr14:67862546-67862547	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564558109	chr14:67862630-67862631	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs57234033	chr14:67862647-67862648	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs139166601	chr14:67862691-67862692	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs185865001	chr14:67862695-67862696	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113798568	chr14:67862698-67862699	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371545841	chr14:67862701-67862702	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs34333402	chr14:67862714-67862715	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112597174	chr14:67862725-67862726	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565386217	chr14:67862743-67862744	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532729857	chr14:67862762-67862763	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544931539	chr14:67862778-67862779	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs114889773	chr14:67862807-67862808	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113408720	chr14:67862826-67862827	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371440197	chr14:67862855-67862856	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374975724	chr14:67862860-67862861	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs367672595	chr14:67862865-67862866	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs370243013	chr14:67862888-67862889	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571502735	chr14:67862915-67862916	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs58724062	chr14:67862958-67862959	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs386778458	chr14:67862976-67862977	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs57635744	chr14:67862977-67862978	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs386778459	chr14:67862988-67862989	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376724501	chr14:67862989-67862990	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567241539	chr14:67862991-67862992	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368510785	chr14:67862993-67862994	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61231333	chr14:67862996-67862997	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61035775	chr14:67863002-67863003	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56829205	chr14:67863008-67863009	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs59116023	chr14:67863020-67863021	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs57803542	chr14:67863022-67863023	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190343776	chr14:67863032-67863033	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs59726546	chr14:67863034-67863035	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111306244	chr14:67863055-67863056	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189423853	chr14:67863071-67863072	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111281324	chr14:67863084-67863085	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112438787	chr14:67863090-67863091	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112161484	chr14:67863107-67863108	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112627128	chr14:67863111-67863112	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371891519	chr14:67863118-67863119	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376778470	chr14:67863122-67863123	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182226431	chr14:67863124-67863125	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369972344	chr14:67863134-67863135	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr14:67835200-67863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:67839600-67862400	Strong transcription	Fetal Intestine Large	intestine
4	chr14:67845000-67864800	Strong transcription	Hela-S3	cervix
5	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
6	chr14:67849600-67864400	Weak transcription	Gastric	stomach
7	chr14:67850200-67878400	Weak transcription	Lung	lung
8	chr14:67850600-67862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:67851000-67863200	Weak transcription	Fetal Lung	lung
10	chr14:67852200-67862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:67852200-67863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:67852400-67862400	Weak transcription	HSMMtube	muscle
13	chr14:67852800-67863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:67852800-67865800	Strong transcription	HMEC	breast
15	chr14:67853200-67862600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:67853800-67862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:67853800-67864600	Strong transcription	Fetal Intestine Small	intestine
18	chr14:67854000-67862400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:67854000-67863000	Weak transcription	HSMM	muscle
20	chr14:67854200-67862600	Weak transcription	NH-A	brain
21	chr14:67854200-67864400	Weak transcription	Left Ventricle	heart
22	chr14:67854200-67872000	Weak transcription	Small Intestine	intestine
23	chr14:67854400-67863200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:67854600-67862600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:67855200-67863200	Weak transcription	A549	lung
26	chr14:67855200-67867400	Strong transcription	NHEK	skin
27	chr14:67855200-67875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:67858600-67867400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:67859600-67876600	Weak transcription	Esophagus	oesophagus
30	chr14:67859800-67866600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:67860000-67863000	Weak transcription	Placenta	Placenta
32	chr14:67860000-67863200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:67860000-67863200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:67860000-67876400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:67860800-67878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:67861200-67862400	Strong transcription	Colonic Mucosa	Colon
37	chr14:67861200-67863200	Enhancers	Fetal Heart	heart
38	chr14:67861600-67864400	Strong transcription	Fetal Stomach	stomach
39	chr14:67861800-67862600	Strong transcription	Pancreas	Pancrea
40	chr14:67861800-67863600	Enhancers	HUVEC	blood vessel
41	chr14:67861800-67864600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:67861800-67864600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:67862000-67862600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:67862000-67863400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:67862000-67876600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:67862200-67862400	Flanking Active TSS	HepG2	liver
47	chr14:67862200-67862600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr14:67862200-67862600	Enhancers	Spleen	Spleen
49	chr14:67862200-67863200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:67862200-67863600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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