Variant report

Variant	nsv983828
Chromosome Location	chr14:56230484-56233929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:549)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:56232804-56233072	T-47D	breast:	n/a	n/a
2	CTCF	chr14:56232799-56233147	K562	blood:	n/a	n/a
3	CTCF	chr14:56232897-56233022	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:56232846-56233090	K562	blood:	n/a	n/a
5	CTCF	chr14:56232845-56233209	K562	blood:	n/a	n/a
6	CTCF	chr14:56232898-56233040	K562	blood:	n/a	n/a
7	CTCF	chr14:56232900-56233050	HepG2	liver:	n/a	n/a
8	CTCF	chr14:56232883-56233040	HepG2	liver:	n/a	n/a
9	CTCF	chr14:56232794-56233110	K562	blood:	n/a	n/a
10	CTCF	chr14:56232860-56233010	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr14:56232909-56233030	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:56232860-56233010	K562	blood:	n/a	n/a
13	MYC	chr14:56233133-56233235	MCF-7	breast:	n/a	n/a
14	POLR2A	chr14:56233130-56233330	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:56233149-56233400	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:56233112-56233592	GM12892	blood:	n/a	n/a
17	POLR2A	chr14:56233125-56233659	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr14:56233559-56233571	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:56232928-56233255	MCF-7	breast:	n/a	n/a
20	POLR2A	chr14:56233138-56233351	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr14:56233094-56233491	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:56233092-56233586	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:56233411-56233637	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:56233138-56233296	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:56231126-56231266	MCF10A-Er-Src	breast:	n/a	n/a
26	YY1	chr14:56232856-56232988	K562	blood:	n/a	n/a
27	ZBTB33	chr14:56233106-56233571	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:56233676-56233726	SK-N-MC	brain:	n/a
2	chr14:56233178-56233228	HL-60	blood:	n/a
3	chr14:56232921-56232971	MCF10A-Er-Src	breast:	n/a
4	chr14:56233068-56233118	HUVEC	blood vessel:	n/a
5	chr14:56232813-56232863	A549	lung:	n/a
6	chr14:56233178-56233228	HCM	heart:	n/a
7	chr14:56232921-56232971	Hepatocyte	liver:	n/a
8	chr14:56232813-56232863	LNCaP	prostate:	n/a
9	chr14:56233068-56233118	HEK293	kidney:	embryo
10	chr14:56232985-56233035	U87	brain:	n/a
11	chr14:56233178-56233228	PrEC	prostate:	n/a
12	chr14:56232985-56233035	HL-60	blood:	n/a
13	chr14:56233676-56233726	Hepatocyte	liver:	n/a
14	chr14:56232813-56232863	GM12892	blood:	n/a
15	chr14:56232921-56232971	HUVEC	blood vessel:	n/a
16	chr14:56232985-56233035	HNPCEpiC	eye:	n/a
17	chr14:56233068-56233118	Jurkat	blood:	n/a
18	chr14:56232921-56232971	HRPEpiC	eye:	n/a
19	chr14:56233068-56233118	IMR90	lung:	fetal
20	chr14:56232650-56232700	HL-60	blood:	n/a
21	chr14:56233178-56233228	Jurkat	blood:	n/a
22	chr14:56233068-56233118	HRPEpiC	eye:	n/a
23	chr14:56231604-56231654	HRPEpiC	eye:	n/a
24	chr14:56231604-56231654	HCT-116	colon:	n/a
25	chr14:56233163-56233213	AG09309	skin:	n/a
26	chr14:56231604-56231654	ECC-1	luminal epithelium:	n/a
27	chr14:56232921-56232971	GM12892	blood:	n/a
28	chr14:56232985-56233035	HMEC	breast:	n/a
29	chr14:56232650-56232700	Caco-2	colon:	n/a
30	chr14:56233178-56233228	AG04450	lung:	fetal
31	chr14:56233676-56233726	HPAEpiC	pulmonary alveolar:	n/a
32	chr14:56233163-56233213	HEEpiC	esophagus:	n/a
33	chr14:56232813-56232863	U87	brain:	n/a
34	chr14:56233068-56233118	HCT-116	colon:	n/a
35	chr14:56233068-56233118	HAEpiC	amniotic membrane:	n/a
36	chr14:56232921-56232971	SAEC	small airway:	n/a
37	chr14:56233068-56233118	SKMC	muscle:	n/a
38	chr14:56232650-56232700	HEK293	kidney:	embryo
39	chr14:56232650-56232700	NB4	blood:	n/a
40	chr14:56233163-56233213	HRCEpiC	kidney:	n/a
41	chr14:56232813-56232863	HEEpiC	esophagus:	n/a
42	chr14:56231604-56231654	SK-N-MC	brain:	n/a
43	chr14:56232985-56233035	AG04449	skin:	fetal
44	chr14:56233178-56233228	NB4	blood:	n/a
45	chr14:56233068-56233118	AG04450	lung:	fetal
46	chr14:56232813-56232863	GM12891	blood:	n/a
47	chr14:56232813-56232863	BJ	skin:	n/a
48	chr14:56232985-56233035	HRE	kidney:	n/a
49	chr14:56232650-56232700	HEEpiC	esophagus:	n/a
50	chr14:56232985-56233035	IMR90	lung:	fetal

No data

Variant related genes	Relation type
RPL13AP3	TF binding region
RPL13AP3	CpG island

Extended variants
information (count: 113 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548584944	chr14:56230503-56230504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533321830	chr14:56230620-56230621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570029962	chr14:56230641-56230642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530928998	chr14:56230642-56230643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149795122	chr14:56230722-56230723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540631286	chr14:56230744-56230745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560514326	chr14:56230748-56230749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80144367	chr14:56230786-56230787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377661640	chr14:56230888-56230889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553697859	chr14:56230899-56230900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4901599	chr14:56230975-56230976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs549440963	chr14:56230979-56230980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535878947	chr14:56231003-56231004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113828552	chr14:56231040-56231041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184530075	chr14:56231041-56231042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368392900	chr14:56231072-56231073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146792516	chr14:56231103-56231104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558583387	chr14:56231104-56231105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577406545	chr14:56231217-56231218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs140482390	chr14:56231243-56231244	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560119779	chr14:56231253-56231254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs530429449	chr14:56231281-56231282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563072176	chr14:56231286-56231287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531828198	chr14:56231314-56231315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563535107	chr14:56231315-56231316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551415549	chr14:56231316-56231317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2342591	chr14:56231360-56231361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552430609	chr14:56231472-56231473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146623561	chr14:56231518-56231519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2342592	chr14:56231578-56231579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28590197	chr14:56231602-56231603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114481645	chr14:56231642-56231643	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs80048687	chr14:56231659-56231660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554396869	chr14:56231710-56231711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569562431	chr14:56231787-56231788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536518045	chr14:56231795-56231796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7494275	chr14:56231800-56231801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
38	rs576143798	chr14:56231834-56231835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550302476	chr14:56231996-56231997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112718609	chr14:56232011-56232012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576852251	chr14:56232062-56232063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527374415	chr14:56232133-56232134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28410684	chr14:56232190-56232191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143364967	chr14:56232221-56232222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553622648	chr14:56232248-56232249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188842841	chr14:56232379-56232380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181233756	chr14:56232389-56232390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563997920	chr14:56232398-56232399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575594683	chr14:56232404-56232405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184452583	chr14:56232409-56232410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	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	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56223400-56246000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:56233200-56234800	Enhancers	Fetal Intestine Large	intestine
3	chr14:56233400-56234200	Enhancers	Fetal Intestine Small	intestine
4	chr14:56233800-56234400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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