Variant report

Variant	nsv523444
Chromosome Location	chr14:63009071-63100169
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	BACH1	chr14:63013629-63013950	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:63051988-63052321	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:63052064-63052345	K562	blood:	n/a	n/a
4	CEBPB	chr14:63044836-63044998	Hela-S3	cervix:	n/a	chr14:63044878-63044889
5	CEBPB	chr14:63048032-63048322	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:63069538-63069737	Hela-S3	cervix:	n/a	chr14:63069630-63069641
7	CEBPB	chr14:63048059-63048315	A549	lung:	n/a	n/a
8	CEBPB	chr14:63069520-63069798	K562	blood:	n/a	chr14:63069630-63069641
9	CEBPB	chr14:63044770-63045036	IMR90	lung:	n/a	chr14:63044878-63044889
10	CEBPB	chr14:63049759-63049889	Hela-S3	cervix:	n/a	chr14:63049846-63049859 chr14:63049789-63049802
11	CEBPB	chr14:63069524-63069778	HepG2	liver:	n/a	chr14:63069630-63069641
12	CEBPB	chr14:63069444-63069797	IMR90	lung:	n/a	chr14:63069630-63069641
13	CEBPB	chr14:63069487-63069812	A549	lung:	n/a	chr14:63069630-63069641
14	CEBPB	chr14:63044735-63044973	A549	lung:	n/a	chr14:63044878-63044889
15	CEBPB	chr14:63044729-63044956	HepG2	liver:	n/a	chr14:63044878-63044889
16	CEBPB	chr14:63074850-63074928	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr14:63016008-63016051	GM10248	blood:	n/a	n/a
18	CTCF	chr14:63080780-63080930	AG04450	lung:	n/a	n/a
19	CTCF	chr14:63013908-63014033	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr14:63013944-63014058	HepG2	liver:	n/a	n/a
21	CTCF	chr14:63020460-63020610	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:63080760-63080910	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr14:63090106-63090140	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:63072379-63072386	LNCaP	prostate:	n/a	n/a
25	CTCF	chr14:63045187-63045293	GM13977	blood:	n/a	n/a
26	CTCF	chr14:63013934-63013996	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:63013980-63014130	GM12866	blood:	n/a	n/a
28	CTCF	chr14:63013969-63014016	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:63020500-63020650	AG04450	lung:	n/a	n/a
30	CTCF	chr14:63031880-63032030	A549	lung:	n/a	n/a
31	CTCF	chr14:63013880-63014030	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr14:63013920-63014070	BE2_C	brain:	n/a	n/a
33	CTCF	chr14:63013720-63013870	NHEK	skin:	n/a	n/a
34	CTCF	chr14:63013940-63014090	BE2_C	brain:	n/a	n/a
35	CTCF	chr14:63013900-63014050	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr14:63045205-63045241	GM20000	blood:	n/a	n/a
37	CTCF	chr14:63013840-63013990	HepG2	liver:	n/a	n/a
38	CTCF	chr14:63013890-63014048	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr14:63013940-63014090	HEK293	kidney:	n/a	n/a
40	CTCF	chr14:63020420-63020570	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr14:63013880-63014030	WERI-Rb-1	eye:	n/a	n/a
42	E2F4	chr14:63082807-63083181	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr14:63064911-63065360	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr14:63036835-63036932	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr14:63033100-63033300	MCF10A-Er-Src	breast:	n/a	n/a
46	FAM48A	chr14:63058858-63058885	GM12878	blood:	n/a	n/a
47	FOS	chr14:63083192-63083756	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr14:63052078-63052334	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr14:63083172-63083747	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr14:63082906-63082969	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:65339248..65340994-chr14:63029582..63031817,2	MCF-7	breast:
2	chr14:63001144..63003304-chr14:63009530..63011158,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH5-5	chr14:63070831-63072435	NONHSAT037294

Variant related genes	Relation type
ENSG00000258877	TF binding region

Extended variants
information (count: 903 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:903 , 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	rs10444728	chr14:63014025-63014026	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530776571	chr14:63014042-63014043	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs1777060	chr14:63014101-63014102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs550567057	chr14:63014115-63014116	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs367992963	chr14:63014175-63014176	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570559750	chr14:63014198-63014199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140036071	chr14:63014201-63014202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375365222	chr14:63014249-63014250	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552224367	chr14:63014259-63014260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573558027	chr14:63014288-63014289	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192507451	chr14:63014292-63014293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11844331	chr14:63014332-63014333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548227048	chr14:63014352-63014353	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs143565223	chr14:63014356-63014357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537189643	chr14:63014401-63014402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7141676	chr14:63014429-63014430	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562261933	chr14:63014439-63014440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576946866	chr14:63014469-63014470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540113955	chr14:63014485-63014486	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146826445	chr14:63014506-63014507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573354633	chr14:63014515-63014516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148952301	chr14:63014542-63014543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562167813	chr14:63014590-63014591	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138314655	chr14:63024011-63024012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149571075	chr14:63024033-63024034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373080442	chr14:63024046-63024047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183977394	chr14:63024087-63024088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553595360	chr14:63024118-63024119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144233119	chr14:63024119-63024120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542344901	chr14:63024131-63024132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556102048	chr14:63024155-63024156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138988409	chr14:63024156-63024157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545648645	chr14:63024170-63024171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143123414	chr14:63024183-63024184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527842418	chr14:63024256-63024257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541642429	chr14:63024266-63024267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563514130	chr14:63024337-63024338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188704592	chr14:63024378-63024379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57392668	chr14:63024390-63024391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185239777	chr14:63024625-63024626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1686780	chr14:63024627-63024628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1777062	chr14:63024665-63024666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532418595	chr14:63024684-63024685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368100316	chr14:63024693-63024694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189603904	chr14:63024698-63024699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571446171	chr14:63024779-63024780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58834936	chr14:63024790-63024791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181974743	chr14:63024807-63024808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139688058	chr14:63024834-63024835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115498342	chr14:63024844-63024845	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63014000-63014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:63024000-63024400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:63024600-63026000	Enhancers	Fetal Brain Male	brain
4	chr14:63025400-63025800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:63057200-63057600	Enhancers	Brain Germinal Matrix	brain
6	chr14:63059600-63060200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:63060200-63063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:63063400-63063600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:63063600-63064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:63070800-63071400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:63070800-63071600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:63071000-63072400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:63071000-63072400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:63071400-63074600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:63074600-63075000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:63074600-63075000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:63074600-63075000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:63080400-63081600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:63080600-63081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:63080600-63081200	Enhancers	Fetal Stomach	stomach
21	chr14:63080600-63081400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:63080600-63081600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:63080800-63081200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:63080800-63081600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:63081000-63081400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:63081200-63081400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:63081600-63081800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:63082000-63084600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:63084600-63084800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:63084800-63085800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:63085800-63086200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:63090000-63090200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:63093000-63093400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:63093400-63095200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:63095200-63096000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:63096000-63096800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:63096200-63097000	Enhancers	Stomach Mucosa	stomach
38	chr14:63096400-63096800	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:63096400-63096800	Enhancers	Fetal Intestine Small	intestine
40	chr14:63096600-63097000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:63096600-63097000	Enhancers	Fetal Brain Male	brain
42	chr14:63096800-63097000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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