Variant report

Variant	nsv977463
Chromosome Location	chr14:47669053-47670785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:47670622-47670894	IMR90	lung:	n/a	chr14:47670750-47670761
2	CEBPB	chr14:47670575-47670926	HepG2	liver:	n/a	chr14:47670750-47670761
3	CTCF	chr14:47670120-47670270	HEK293	kidney:	n/a	n/a
4	CTCF	chr14:47670160-47670310	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr14:47670180-47670330	HepG2	liver:	n/a	n/a
6	CTCF	chr14:47670188-47670291	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:47670200-47670203	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:47670158-47670319	A549	lung:	n/a	n/a
9	CTCF	chr14:47670240-47670290	MCF-7	breast:	n/a	n/a
10	MYC	chr14:47670072-47670104	MCF-7	breast:	n/a	n/a
11	POLR2A	chr14:47670154-47670309	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:47670029-47670289	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47670060-47670110	NHDF-neo	bronchial:	n/a
2	chr14:47670060-47670110	HMEC	breast:	n/a
3	chr14:47670060-47670110	BJ	skin:	n/a
4	chr14:47670060-47670110	HEEpiC	esophagus:	n/a
5	chr14:47670060-47670110	NB4	blood:	n/a
6	chr14:47670060-47670110	PrEC	prostate:	n/a
7	chr14:47670060-47670110	ovcar-3	ovarian:	n/a
8	chr14:47670060-47670110	A549	lung:	n/a
9	chr14:47670060-47670110	MCF-7	breast:	n/a
10	chr14:47670060-47670110	HCT-116	colon:	n/a
11	chr14:47670060-47670110	HL-60	blood:	n/a
12	chr14:47670060-47670110	HCF	heart:	n/a
13	chr14:47670060-47670110	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:47670060-47670110	Hepatocyte	liver:	n/a
15	chr14:47670060-47670110	SK-N-SH_RA	brain:	n/a
16	chr14:47670060-47670110	BE2_C	brain:	n/a
17	chr14:47670060-47670110	NH-A	brain:	n/a
18	chr14:47670060-47670110	HNPCEpiC	eye:	n/a
19	chr14:47670060-47670110	H1-hESC	embryonic stem cell:	embryo
20	chr14:47670060-47670110	HAEpiC	amniotic membrane:	n/a
21	chr14:47670060-47670110	AG10803	skin:	n/a
22	chr14:47670060-47670110	HUVEC	blood vessel:	n/a
23	chr14:47670060-47670110	PANC-1	pancreas:	n/a
24	chr14:47670060-47670110	T-47D	breast:	n/a
25	chr14:47670060-47670110	SKMC	muscle:	n/a
26	chr14:47670060-47670110	AG04450	lung:	fetal
27	chr14:47670060-47670110	SK-N-SH	brain:	n/a
28	chr14:47670060-47670110	K562	blood:	n/a
29	chr14:47670060-47670110	AG04449	skin:	fetal
30	chr14:47670060-47670110	GM12892	blood:	n/a
31	chr14:47670060-47670110	SAEC	small airway:	n/a
32	chr14:47670060-47670110	NT2-D1	testis:	n/a
33	chr14:47670060-47670110	Jurkat	blood:	n/a
34	chr14:47670060-47670110	GM06990	blood:	n/a
35	chr14:47670060-47670110	PFSK-1	brain:	n/a
36	chr14:47670060-47670110	ProgFib	skin:	n/a
37	chr14:47670060-47670110	ECC-1	luminal epithelium:	n/a
38	chr14:47670060-47670110	MCF10A-Er-Src	breast:	n/a
39	chr14:47670060-47670110	NHBE	bronchial:	n/a
40	chr14:47670060-47670110	RPTEC	kidney:	n/a
41	chr14:47670060-47670110	HIPEpiC	eye:	n/a
42	chr14:47670060-47670110	HCM	heart:	n/a
43	chr14:47670060-47670110	GM19239	blood:	n/a
44	chr14:47670060-47670110	Caco-2	colon:	n/a
45	chr14:47670060-47670110	AoSMC	blood vessel:	n/a
46	chr14:47670060-47670110	U87	brain:	n/a
47	chr14:47670060-47670110	HRCEpiC	kidney:	n/a
48	chr14:47670060-47670110	Hela-S3	cervix:	n/a
49	chr14:47670060-47670110	SK-N-MC	brain:	n/a
50	chr14:47670060-47670110	HRPEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL10L-2	chr14:47669778-47670307	NONHSAT036686

No data

Variant related genes	Relation type
RPL13AP2	TF binding region
RPL13AP2	CpG island

Extended variants
information (count: 72 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537607781	chr14:47669080-47669081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554756866	chr14:47669093-47669094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574600583	chr14:47669134-47669135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574192129	chr14:47669188-47669189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534131366	chr14:47669198-47669199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10572838	chr14:47669202-47669203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35581430	chr14:47669205-47669206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554201645	chr14:47669209-47669210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577347721	chr14:47669228-47669229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192061928	chr14:47669293-47669294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562814131	chr14:47669299-47669300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576497548	chr14:47669304-47669305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542018130	chr14:47669314-47669315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562352517	chr14:47669413-47669414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545793804	chr14:47669415-47669416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183874437	chr14:47669422-47669423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575685768	chr14:47669447-47669448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544311952	chr14:47669495-47669496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559125493	chr14:47669502-47669503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547717980	chr14:47669563-47669564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186393378	chr14:47669567-47669568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189660407	chr14:47669585-47669586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552163825	chr14:47669616-47669617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568816677	chr14:47669621-47669622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537947884	chr14:47669653-47669654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7156600	chr14:47669657-47669658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542171168	chr14:47669673-47669674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182258419	chr14:47669709-47669710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534067520	chr14:47669721-47669722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373345785	chr14:47669737-47669738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59353740	chr14:47669752-47669753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554139872	chr14:47669788-47669789	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs186905395	chr14:47669809-47669810	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs559134072	chr14:47669824-47669825	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs1958086	chr14:47669868-47669869	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556531565	chr14:47669881-47669882	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs576455859	chr14:47669882-47669883	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs542349107	chr14:47669913-47669914	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs191194532	chr14:47669958-47669959	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113480226	chr14:47669961-47669962	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs137891957	chr14:47669972-47669973	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs541245949	chr14:47669989-47669990	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs147136238	chr14:47670015-47670016	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs564402326	chr14:47670105-47670106	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs533453281	chr14:47670123-47670124	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs545428506	chr14:47670136-47670137	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs183496538	chr14:47670140-47670141	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs531299348	chr14:47670194-47670195	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs548302603	chr14:47670226-47670227	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs568241367	chr14:47670248-47670249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Colorectal cancer	16774939	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
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47669000-47671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:47669600-47671600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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