Variant report

Variant	nsv1262
Chromosome Location	chr14:45928485-45972922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:45936127-45936179	GM10248	blood:	n/a	n/a
2	CTCF	chr14:45954854-45954876	GM13976	blood:	n/a	n/a
3	CTCF	chr14:45940956-45941030	GM10248	blood:	n/a	n/a
4	E2F4	chr14:45963619-45963798	MCF10A-Er-Src	breast:	n/a	chr14:45963736-45963745
5	FOS	chr14:45960776-45960930	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr14:45960711-45960980	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr14:45960780-45960904	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:45960808-45960931	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA2	chr14:45964820-45965166	A549	lung:	n/a	n/a
10	FOXA2	chr14:45955336-45955580	A549	lung:	n/a	n/a
11	FOXA2	chr14:45951675-45952042	A549	lung:	n/a	n/a
12	FOXA2	chr14:45951551-45952251	A549	lung:	n/a	n/a
13	FOXA2	chr14:45964792-45965189	A549	lung:	n/a	n/a
14	FOXA2	chr14:45955267-45955643	A549	lung:	n/a	n/a
15	JUN	chr14:45931264-45931314	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFF	chr14:45955826-45956172	HepG2	liver:	n/a	chr14:45955987-45956001 chr14:45955988-45956006
17	MAFK	chr14:45955844-45956174	IMR90	lung:	n/a	chr14:45955994-45956005 chr14:45955993-45956004 chr14:45955992-45956006 chr14:45955994-45956005 chr14:45955984-45956004 chr14:45955993-45956004 chr14:45955989-45956005 chr14:45955989-45956004
18	MAFK	chr14:45955816-45956180	HepG2	liver:	n/a	chr14:45955994-45956005 chr14:45955993-45956004 chr14:45955992-45956006 chr14:45955994-45956005 chr14:45955984-45956004 chr14:45955993-45956004 chr14:45955989-45956005 chr14:45955989-45956004
19	MAFK	chr14:45955936-45956096	Hela-S3	cervix:	n/a	chr14:45955994-45956005 chr14:45955993-45956004 chr14:45955992-45956006 chr14:45955994-45956005 chr14:45955984-45956004 chr14:45955993-45956004 chr14:45955989-45956005 chr14:45955989-45956004
20	MAFK	chr14:45955823-45956180	HepG2	liver:	n/a	chr14:45955994-45956005 chr14:45955993-45956004 chr14:45955992-45956006 chr14:45955994-45956005 chr14:45955984-45956004 chr14:45955993-45956004 chr14:45955989-45956005 chr14:45955989-45956004
21	MYC	chr14:45955783-45955824	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:45965012-45965177	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr14:45964959-45965144	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:45964938-45965153	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:45964975-45965025	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr14:45940912-45941236	MCF-7	breast:	n/a	chr14:45941037-45941049 chr14:45941037-45941047
27	STAT3	chr14:45963039-45963239	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr14:45965830-45965849	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr14:45960729-45960949	MCF10A-Er-Src	breast:	n/a	chr14:45960881-45960892
30	STAT3	chr14:45960725-45960934	MCF10A-Er-Src	breast:	n/a	chr14:45960881-45960892
31	STAT3	chr14:45940763-45940919	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr14:45960831-45960928	MCF10A-Er-Src	breast:	n/a	chr14:45960881-45960892
33	STAT3	chr14:45932585-45932785	MCF10A-Er-Src	breast:	n/a	n/a
34	TAF1	chr14:45951949-45952134	H1-hESC	embryonic stem cell:	n/a	n/a
35	TEAD4	chr14:45964235-45964600	H1-hESC	embryonic stem cell:	n/a	n/a
36	USF1	chr14:45962192-45962312	HepG2	liver:	n/a	chr14:45962257-45962268
37	USF2	chr14:45962170-45962312	Hela-S3	cervix:	n/a	chr14:45962256-45962267

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45930824-45930874	LNCaP	prostate:	n/a
2	chr14:45930824-45930874	GM12891	blood:	n/a
3	chr14:45930824-45930874	A549	lung:	n/a
4	chr14:45930824-45930874	PFSK-1	brain:	n/a
5	chr14:45930824-45930874	NB4	blood:	n/a
6	chr14:45930824-45930874	T-47D	breast:	n/a
7	chr14:45930824-45930874	HAEpiC	amniotic membrane:	n/a
8	chr14:45930824-45930874	CMK	blood:	n/a
9	chr14:45930824-45930874	SK-N-MC	brain:	n/a
10	chr14:45930824-45930874	AG09319	gingival:	n/a
11	chr14:45930824-45930874	GM06990	blood:	n/a
12	chr14:45930824-45930874	SK-N-SH_RA	brain:	n/a
13	chr14:45930824-45930874	AG04450	lung:	fetal
14	chr14:45930824-45930874	PANC-1	pancreas:	n/a
15	chr14:45930824-45930874	K562	blood:	n/a
16	chr14:45930824-45930874	MCF-7	breast:	n/a
17	chr14:45930824-45930874	HMEC	breast:	n/a
18	chr14:45930824-45930874	ProgFib	skin:	n/a
19	chr14:45930824-45930874	AG10803	skin:	n/a
20	chr14:45930824-45930874	NH-A	brain:	n/a
21	chr14:45930824-45930874	SK-N-SH	brain:	n/a
22	chr14:45930824-45930874	NHDF-neo	bronchial:	n/a
23	chr14:45930824-45930874	PrEC	prostate:	n/a
24	chr14:45930824-45930874	AG09309	skin:	n/a
25	chr14:45930824-45930874	H1-hESC	embryonic stem cell:	embryo
26	chr14:45930824-45930874	HIPEpiC	eye:	n/a
27	chr14:45930824-45930874	HCPEpiC	choroid plexus:	n/a
28	chr14:45930824-45930874	AG04449	skin:	fetal
29	chr14:45930824-45930874	RPTEC	kidney:	n/a
30	chr14:45930824-45930874	HPAEpiC	pulmonary alveolar:	n/a
31	chr14:45930824-45930874	HL-60	blood:	n/a
32	chr14:45930824-45930874	HRE	kidney:	n/a
33	chr14:45930824-45930874	HRPEpiC	eye:	n/a
34	chr14:45930824-45930874	MCF10A-Er-Src	breast:	n/a
35	chr14:45930824-45930874	GM12878	blood:	n/a
36	chr14:45930824-45930874	HEK293	kidney:	embryo
37	chr14:45930824-45930874	GM12892	blood:	n/a
38	chr14:45930824-45930874	Hepatocyte	liver:	n/a
39	chr14:45930824-45930874	U87	brain:	n/a
40	chr14:45930824-45930874	ECC-1	luminal epithelium:	n/a
41	chr14:45930824-45930874	HCM	heart:	n/a
42	chr14:45930824-45930874	ovcar-3	ovarian:	n/a
43	chr14:45930824-45930874	GM19239	blood:	n/a
44	chr14:45930824-45930874	HCT-116	colon:	n/a
45	chr14:45930824-45930874	HNPCEpiC	eye:	n/a
46	chr14:45930824-45930874	Jurkat	blood:	n/a
47	chr14:45930824-45930874	AoSMC	blood vessel:	n/a
48	chr14:45930824-45930874	NT2-D1	testis:	n/a
49	chr14:45930824-45930874	HCF	heart:	n/a
50	chr14:45930824-45930874	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45932172..45934812-chr14:45938386..45940699,2	K562	blood:
2	chr14:45932172..45934812-chr14:45938386..45940699,2	K562	blood:

Variant related genes	Relation type
ENSG00000258746	TF binding region
ENSG00000258746	CpG island

Extended variants
information (count: 916 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184115308	chr14:45930431-45930432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539704510	chr14:45930445-45930446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369941901	chr14:45930468-45930469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557795383	chr14:45930497-45930498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576072785	chr14:45930508-45930509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7159397	chr14:45930546-45930547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7159881	chr14:45930560-45930561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573775757	chr14:45930588-45930589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540807220	chr14:45930594-45930595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560718816	chr14:45930674-45930675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188510428	chr14:45930677-45930678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546445137	chr14:45930694-45930695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568984703	chr14:45930731-45930732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181025756	chr14:45930824-45930825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549768089	chr14:45930830-45930831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376215002	chr14:45930848-45930849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117345825	chr14:45930853-45930854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560977921	chr14:45930882-45930883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537977262	chr14:45930890-45930891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562782414	chr14:45930907-45930908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529380647	chr14:45930960-45930961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185907716	chr14:45930966-45930967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192001348	chr14:45930982-45930983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578135223	chr14:45930996-45930997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370244760	chr14:45931075-45931076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557916933	chr14:45931087-45931088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569968361	chr14:45931197-45931198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540661531	chr14:45931328-45931329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374541598	chr14:45931334-45931335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12881409	chr14:45931380-45931381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555391913	chr14:45931396-45931397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76004961	chr14:45931438-45931439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187102036	chr14:45931457-45931458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140332908	chr14:45931460-45931461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190764522	chr14:45931669-45931670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182993754	chr14:45931683-45931684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187330479	chr14:45931686-45931687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531882307	chr14:45931715-45931716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77517384	chr14:45931742-45931743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145482120	chr14:45931748-45931749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35300189	chr14:45931762-45931763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190058761	chr14:45931768-45931769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532839605	chr14:45931772-45931773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547841530	chr14:45931786-45931787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182330920	chr14:45931818-45931819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs8007584	chr14:45931861-45931862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187735887	chr14:45931910-45931911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569905422	chr14:45931953-45931954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370242238	chr14:45931983-45931984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374199542	chr14:45931985-45931986	Enhancers	n/a	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
Multiple myeloma	17550852	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45930400-45931200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr14:45930400-45931400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:45930400-45931600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:45930600-45931200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:45930600-45931800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:45930600-45932600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:45932600-45936000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:45933800-45934400	Enhancers	Colon Smooth Muscle	Colon
9	chr14:45934200-45935400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:45935600-45936400	Active TSS	Psoas Muscle	Psoas
11	chr14:45935800-45936800	Enhancers	Fetal Heart	heart
12	chr14:45936000-45936600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:45936000-45936600	Enhancers	Pancreas	Pancrea
14	chr14:45936000-45936600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr14:45936400-45936600	Enhancers	Psoas Muscle	Psoas
16	chr14:45936400-45937400	Enhancers	Rectal Smooth Muscle	rectum
17	chr14:45936600-45939600	Weak transcription	Psoas Muscle	Psoas
18	chr14:45951600-45952200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:45960800-45962000	Enhancers	Liver	Liver
20	chr14:45961000-45962800	Enhancers	Pancreas	Pancrea
21	chr14:45961800-45962600	Enhancers	Left Ventricle	heart
22	chr14:45962000-45962600	Enhancers	Right Atrium	heart
23	chr14:45962200-45962600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:45962200-45962600	Enhancers	Gastric	stomach
25	chr14:45962600-45965000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:45965000-45965200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr14:45965000-45966200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:45966200-45973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:45972800-45973200	Enhancers	Liver	Liver

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