Variant report

Variant	nsv1040555
Chromosome Location	chr14:38271184-38314601
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	ARID3A	chr14:38303625-38303740	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:38288259-38289246	HepG2	liver:	n/a	n/a
3	BHLHE40	chr14:38288516-38288820	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:38313457-38313687	ECC-1	luminal epithelium:	n/a	chr14:38313601-38313612
5	CEBPB	chr14:38313415-38313793	HepG2	liver:	n/a	chr14:38313601-38313612
6	CEBPB	chr14:38313389-38313845	A549	lung:	n/a	chr14:38313601-38313612
7	CEBPB	chr14:38288563-38288893	Hela-S3	cervix:	n/a	chr14:38288740-38288751 chr14:38288742-38288753
8	CEBPB	chr14:38313496-38313703	H1-hESC	embryonic stem cell:	n/a	chr14:38313601-38313612
9	CEBPB	chr14:38288659-38288825	MCF-7	breast:	n/a	chr14:38288740-38288751 chr14:38288742-38288753
10	CEBPB	chr14:38289638-38289968	HepG2	liver:	n/a	chr14:38289796-38289807 chr14:38289795-38289808
11	CEBPB	chr14:38290660-38290925	HepG2	liver:	n/a	chr14:38290789-38290800
12	CEBPB	chr14:38313447-38313772	Hela-S3	cervix:	n/a	chr14:38313601-38313612
13	CEBPB	chr14:38271918-38271998	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr14:38288405-38288863	A549	lung:	n/a	chr14:38288740-38288751 chr14:38288742-38288753
15	CEBPB	chr14:38313359-38313792	HepG2	liver:	n/a	chr14:38313601-38313612
16	CEBPB	chr14:38313413-38313788	K562	blood:	n/a	chr14:38313601-38313612
17	CEBPB	chr14:38288369-38288896	HepG2	liver:	n/a	chr14:38288740-38288751 chr14:38288742-38288753
18	CEBPB	chr14:38288592-38288863	H1-hESC	embryonic stem cell:	n/a	chr14:38288740-38288751 chr14:38288742-38288753
19	CEBPB	chr14:38289657-38289831	H1-hESC	embryonic stem cell:	n/a	chr14:38289796-38289807 chr14:38289795-38289808
20	CEBPB	chr14:38313369-38313818	MCF-7	breast:	n/a	chr14:38313601-38313612
21	CEBPB	chr14:38288248-38288936	HepG2	liver:	n/a	chr14:38288740-38288751 chr14:38288742-38288753
22	CEBPB	chr14:38288627-38288842	HepG2	liver:	n/a	chr14:38288740-38288751 chr14:38288742-38288753
23	CEBPB	chr14:38288344-38288897	IMR90	lung:	n/a	chr14:38288740-38288751 chr14:38288742-38288753
24	CEBPB	chr14:38313446-38313776	A549	lung:	n/a	chr14:38313601-38313612
25	CEBPB	chr14:38313521-38313730	HepG2	liver:	n/a	chr14:38313601-38313612
26	CEBPB	chr14:38313423-38313757	IMR90	lung:	n/a	chr14:38313601-38313612
27	CEBPD	chr14:38313484-38313708	HepG2	liver:	n/a	n/a
28	CTCF	chr14:38280570-38280700	Medullo	brain:	n/a	n/a
29	CTCF	chr14:38294680-38294830	GM06990	blood:	n/a	n/a
30	CTCF	chr14:38290318-38290354	GM10248	blood:	n/a	n/a
31	CTCF	chr14:38280580-38280730	HepG2	liver:	n/a	n/a
32	CTCF	chr14:38292112-38292162	Lung_OC	lung:	n/a	n/a
33	E2F4	chr14:38288444-38288644	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr14:38278981-38279069	MCF10A-Er-Src	breast:	n/a	n/a
35	EP300	chr14:38288438-38288845	HepG2	liver:	n/a	chr14:38288565-38288575
36	EP300	chr14:38288340-38288853	HepG2	liver:	n/a	chr14:38288565-38288575
37	EP300	chr14:38288284-38288925	HepG2	liver:	n/a	chr14:38288565-38288575
38	FOS	chr14:38288568-38288876	MCF10A-Er-Src	breast:	n/a	chr14:38288750-38288760 chr14:38288750-38288760
39	FOS	chr14:38283010-38283177	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr14:38288607-38288820	MCF10A-Er-Src	breast:	n/a	chr14:38288750-38288760 chr14:38288750-38288760
41	FOS	chr14:38283107-38283200	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr14:38288590-38288764	HUVEC	blood vessel:	n/a	chr14:38288750-38288760 chr14:38288750-38288760
43	FOS	chr14:38288549-38288905	MCF10A-Er-Src	breast:	n/a	chr14:38288750-38288760 chr14:38288750-38288760
44	FOS	chr14:38288577-38288878	MCF10A-Er-Src	breast:	n/a	chr14:38288750-38288760 chr14:38288750-38288760
45	FOS	chr14:38283094-38283199	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr14:38282999-38283200	MCF10A-Er-Src	breast:	n/a	n/a
47	FOXA1	chr14:38288237-38288941	HepG2	liver:	n/a	n/a
48	FOXA1	chr14:38285798-38286390	HepG2	liver:	n/a	n/a
49	FOXA1	chr14:38285957-38286379	HepG2	liver:	n/a	n/a
50	FOXA1	chr14:38296015-38296457	T-47D	breast:	n/a	chr14:38296183-38296195

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38279064-38279114	BJ	skin:	n/a
2	chr14:38279064-38279114	IMR90	lung:	fetal
3	chr14:38279064-38279114	ProgFib	skin:	n/a
4	chr14:38279064-38279114	H1-hESC	embryonic stem cell:	embryo
5	chr14:38279064-38279114	A549	lung:	n/a
6	chr14:38279064-38279114	HL-60	blood:	n/a
7	chr14:38279064-38279114	MCF10A-Er-Src	breast:	n/a
8	chr14:38279064-38279114	BE2_C	brain:	n/a
9	chr14:38279064-38279114	T-47D	breast:	n/a
10	chr14:38279064-38279114	NT2-D1	testis:	n/a
11	chr14:38279064-38279114	GM19239	blood:	n/a
12	chr14:38279064-38279114	HCF	heart:	n/a
13	chr14:38279064-38279114	HEK293	kidney:	embryo
14	chr14:38279064-38279114	AG09309	skin:	n/a
15	chr14:38279064-38279114	Hela-S3	cervix:	n/a
16	chr14:38279064-38279114	HAEpiC	amniotic membrane:	n/a
17	chr14:38279064-38279114	RPTEC	kidney:	n/a
18	chr14:38279064-38279114	NH-A	brain:	n/a
19	chr14:38279064-38279114	AG04449	skin:	fetal
20	chr14:38279064-38279114	ovcar-3	ovarian:	n/a
21	chr14:38279064-38279114	GM12891	blood:	n/a
22	chr14:38279064-38279114	HEEpiC	esophagus:	n/a
23	chr14:38279064-38279114	AG04450	lung:	fetal
24	chr14:38279064-38279114	HIPEpiC	eye:	n/a
25	chr14:38279064-38279114	HMEC	breast:	n/a
26	chr14:38279064-38279114	HepG2	liver:	n/a
27	chr14:38279064-38279114	Caco-2	colon:	n/a
28	chr14:38279064-38279114	HRPEpiC	eye:	n/a
29	chr14:38279064-38279114	NHBE	bronchial:	n/a
30	chr14:38279064-38279114	SK-N-MC	brain:	n/a
31	chr14:38279064-38279114	GM06990	blood:	n/a
32	chr14:38279064-38279114	HCPEpiC	choroid plexus:	n/a
33	chr14:38279064-38279114	PANC-1	pancreas:	n/a
34	chr14:38279064-38279114	AG09319	gingival:	n/a
35	chr14:38279064-38279114	CMK	blood:	n/a
36	chr14:38279064-38279114	SK-N-SH_RA	brain:	n/a
37	chr14:38279064-38279114	HRCEpiC	kidney:	n/a
38	chr14:38279064-38279114	U87	brain:	n/a
39	chr14:38279064-38279114	K562	blood:	n/a
40	chr14:38279064-38279114	PFSK-1	brain:	n/a
41	chr14:38279064-38279114	Jurkat	blood:	n/a
42	chr14:38279064-38279114	LNCaP	prostate:	n/a
43	chr14:38279064-38279114	HRE	kidney:	n/a
44	chr14:38279064-38279114	MCF-7	breast:	n/a
45	chr14:38279064-38279114	SKMC	muscle:	n/a
46	chr14:38279064-38279114	GM12892	blood:	n/a
47	chr14:38279064-38279114	SK-N-SH	brain:	n/a
48	chr14:38279064-38279114	NB4	blood:	n/a
49	chr14:38279064-38279114	HCM	heart:	n/a
50	chr14:38279064-38279114	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:38288642..38290464-chr14:38293057..38295277,2	MCF-7	breast:
2	chr14:38063353..38065330-chr14:38297774..38300460,2	MCF-7	breast:
3	chr14:38273224..38275723-chr14:38279510..38281745,2	K562	blood:
4	chr14:38288642..38290464-chr14:38293057..38295277,2	MCF-7	breast:
5	chr14:38063198..38065699-chr14:38312720..38314688,2	MCF-7	breast:
6	chr14:38273224..38275723-chr14:38279510..38281745,2	K562	blood:

Variant related genes	Relation type
RNU6-1277P	TF binding region
TTC6	TF binding region
RNU6-1277P	CpG island
TTC6	CpG island
ENSG00000139865	chromatin interactions
ENSG00000129514	chromatin interactions

Extended variants
information (count: 1291 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1291 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149587085	chr14:38271188-38271189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577723059	chr14:38271203-38271204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575705455	chr14:38271221-38271222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544337221	chr14:38271264-38271265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146420118	chr14:38271303-38271304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112076605	chr14:38271325-38271326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142965048	chr14:38271336-38271337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560801100	chr14:38271366-38271367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537828451	chr14:38271401-38271402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186572708	chr14:38271428-38271429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562427192	chr14:38271448-38271449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36003805	chr14:38271506-38271507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147542456	chr14:38271551-38271552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578038487	chr14:38271605-38271606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35243823	chr14:38271606-38271607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112936790	chr14:38271626-38271627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368930718	chr14:38271629-38271630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11156970	chr14:38271650-38271651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs80135581	chr14:38271666-38271667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116562097	chr14:38271724-38271725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191933667	chr14:38271731-38271732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572492039	chr14:38271759-38271760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555348156	chr14:38271780-38271781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569107898	chr14:38271795-38271796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538233187	chr14:38271802-38271803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200160161	chr14:38271854-38271855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558008984	chr14:38271869-38271870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578036657	chr14:38271870-38271871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148574399	chr14:38271871-38271872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540857058	chr14:38271882-38271883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554379069	chr14:38271896-38271897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574396283	chr14:38271920-38271921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35779497	chr14:38271943-38271944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397852922	chr14:38271956-38271957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543298167	chr14:38271961-38271962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563195811	chr14:38271965-38271966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150664637	chr14:38272020-38272021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183733066	chr14:38272065-38272066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139119166	chr14:38272088-38272089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144030822	chr14:38272118-38272119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527359871	chr14:38272129-38272130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547202324	chr14:38272155-38272156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567079994	chr14:38272164-38272165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529939974	chr14:38272207-38272208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561160867	chr14:38272218-38272219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186367233	chr14:38272239-38272240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537885839	chr14:38272292-38272293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138743532	chr14:38272316-38272317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551729742	chr14:38272380-38272381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543585983	chr14:38272402-38272403	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
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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38266600-38279400	Weak transcription	HepG2	liver
2	chr14:38269800-38279000	Weak transcription	Fetal Lung	lung
3	chr14:38276400-38279600	Weak transcription	Stomach Mucosa	stomach
4	chr14:38278800-38279000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:38278800-38279800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:38278800-38280000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:38278800-38280000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:38278800-38280000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:38278800-38280000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:38278800-38280200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:38278800-38280200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:38279000-38279600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:38279000-38279800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:38279000-38280000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:38279000-38280000	Enhancers	Fetal Lung	lung
16	chr14:38279000-38280200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:38279000-38289000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:38279200-38280000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:38279200-38280200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:38279200-38280400	Enhancers	Liver	Liver
21	chr14:38279400-38280800	Enhancers	HepG2	liver
22	chr14:38279600-38280000	Enhancers	Stomach Mucosa	stomach
23	chr14:38280200-38280400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:38280200-38280800	Enhancers	Fetal Brain Male	brain
25	chr14:38280400-38280600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:38280400-38295600	Weak transcription	Liver	Liver
27	chr14:38280800-38285200	Weak transcription	HepG2	liver
28	chr14:38285200-38289800	Enhancers	HepG2	liver
29	chr14:38285400-38285800	Enhancers	Fetal Intestine Small	intestine
30	chr14:38285600-38286400	Enhancers	Fetal Intestine Large	intestine
31	chr14:38288000-38288400	Enhancers	NH-A	brain
32	chr14:38288000-38288600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:38288000-38289200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:38288000-38289200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:38288000-38289200	Enhancers	Fetal Heart	heart
36	chr14:38288000-38289400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr14:38288000-38289400	Enhancers	NHDF-Ad	bronchial
38	chr14:38288000-38289600	Enhancers	HSMMtube	muscle
39	chr14:38288200-38289000	Enhancers	Colon Smooth Muscle	Colon
40	chr14:38288200-38289000	Enhancers	NHLF	lung
41	chr14:38288200-38289400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:38288200-38289400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:38288200-38289400	Enhancers	HSMM	muscle
44	chr14:38288400-38294200	Weak transcription	NH-A	brain
45	chr14:38289000-38289400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:38289000-38289400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:38289000-38289400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:38289000-38294200	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:38289200-38293800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:38289400-38294000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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