Variant report

Variant	nsv902165
Chromosome Location	chr14:85453100-85508393
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	BHLHE40	chr14:85504871-85505190	GM12878	blood:	n/a	n/a
2	BRCA1	chr14:85468850-85468851	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:85476561-85476863	Hela-S3	cervix:	n/a	chr14:85476660-85476671 chr14:85476623-85476636
4	CEBPB	chr14:85457461-85457820	IMR90	lung:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
5	CEBPB	chr14:85506788-85506891	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:85457325-85457796	HepG2	liver:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457349-85457366 chr14:85457637-85457650
7	CEBPB	chr14:85457454-85457788	Hela-S3	cervix:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
8	CEBPB	chr14:85457510-85457794	A549	lung:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
9	CEBPB	chr14:85457498-85457685	H1-hESC	embryonic stem cell:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
10	CTCF	chr14:85474820-85474886	LNCaP	prostate:	n/a	n/a
11	CTCF	chr14:85492500-85492650	HMEC	breast:	n/a	n/a
12	CTCF	chr14:85492367-85492691	GM12878	blood:	n/a	n/a
13	CTCF	chr14:85453960-85454110	HA-sp	spinal cord:	n/a	n/a
14	CTCF	chr14:85492460-85492610	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr14:85492480-85492630	HMEC	breast:	n/a	n/a
16	CTCF	chr14:85476347-85476403	H1-hESC	embryonic stem cell:	n/a	n/a
17	EBF1	chr14:85505087-85505182	GM12878	blood:	n/a	n/a
18	FOS	chr14:85491382-85491605	MCF10A-Er-Src	breast:	n/a	chr14:85491570-85491578
19	FOS	chr14:85476678-85476781	MCF10A-Er-Src	breast:	n/a	chr14:85476757-85476765 chr14:85476757-85476764
20	FOS	chr14:85476687-85476870	MCF10A-Er-Src	breast:	n/a	chr14:85476757-85476765 chr14:85476757-85476764
21	FOS	chr14:85476645-85476659	MCF10A-Er-Src	breast:	n/a	n/a
22	FOXA2	chr14:85490231-85490584	A549	lung:	n/a	n/a
23	GATA3	chr14:85507783-85508134	T-47D	breast:	n/a	n/a
24	JUND	chr14:85498009-85498112	HepG2	liver:	n/a	chr14:85498042-85498053 chr14:85498044-85498053 chr14:85498043-85498052 chr14:85498045-85498052 chr14:85498043-85498053
25	JUND	chr14:85483194-85483379	HepG2	liver:	n/a	chr14:85483340-85483349
26	KAP1	chr14:85482822-85483896	U2OS	brain:	n/a	n/a
27	MAFF	chr14:85483038-85483306	HepG2	liver:	n/a	chr14:85483154-85483172
28	MAFF	chr14:85477283-85477522	HepG2	liver:	n/a	chr14:85477401-85477419
29	MAFK	chr14:85483026-85483336	HepG2	liver:	n/a	chr14:85483157-85483168 chr14:85483156-85483172 chr14:85483156-85483167 chr14:85483156-85483171 chr14:85483156-85483167
30	MAFK	chr14:85477261-85477508	IMR90	lung:	n/a	chr14:85477402-85477417
31	MAFK	chr14:85473478-85473483	HepG2	liver:	n/a	n/a
32	MAFK	chr14:85477334-85477438	HepG2	liver:	n/a	chr14:85477402-85477417
33	MAFK	chr14:85477269-85477580	HepG2	liver:	n/a	chr14:85477402-85477417
34	MAFK	chr14:85483079-85483277	HepG2	liver:	n/a	chr14:85483157-85483168 chr14:85483156-85483172 chr14:85483156-85483167 chr14:85483156-85483171 chr14:85483156-85483167
35	MAFK	chr14:85482779-85482940	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAFK	chr14:85477322-85477469	Hela-S3	cervix:	n/a	chr14:85477402-85477417
37	MAFK	chr14:85483072-85483275	IMR90	lung:	n/a	chr14:85483157-85483168 chr14:85483156-85483172 chr14:85483156-85483167 chr14:85483156-85483171 chr14:85483156-85483167
38	MAX	chr14:85463912-85463939	A549	lung:	n/a	n/a
39	MXI1	chr14:85508113-85508140	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr14:85476748-85476905	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr14:85490465-85490547	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr14:85506896-85507046	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr14:85476642-85476764	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr14:85469720-85469920	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr14:85490580-85490682	MCF-7	breast:	n/a	n/a
46	POLR2A	chr14:85460365-85460401	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr14:85475565-85475608	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr14:85465064-85465213	GM12878	blood:	n/a	n/a
49	POLR2A	chr14:85491348-85491665	U87	brain:	n/a	n/a
50	POLR2A	chr14:85467948-85468210	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:85490593..85492977-chr14:85499997..85502268,2	K562	blood:
2	chr14:85504367..85505311-chr9:111430924..111431510,2	MCF-7	breast:
3	chr14:85490593..85492977-chr14:85499997..85502268,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GALC-15	chr14:85464622-85465640	NONHSAT038108

Variant related genes	Relation type
ENSG00000271712	TF binding region

Extended variants
information (count: 1011 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546539945	chr14:85454455-85454456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1756575	chr14:85454503-85454504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528777513	chr14:85454517-85454518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376820392	chr14:85454582-85454583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568635278	chr14:85454628-85454629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573372305	chr14:85454629-85454630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373519752	chr14:85454648-85454649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188971459	chr14:85454670-85454671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568535134	chr14:85454674-85454675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181659986	chr14:85454704-85454705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1958800	chr14:85454710-85454711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566470263	chr14:85454725-85454726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184673060	chr14:85454780-85454781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555278646	chr14:85454809-85454810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150075489	chr14:85454823-85454824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578026102	chr14:85454824-85454825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138387049	chr14:85454845-85454846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148998822	chr14:85454855-85454856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545176032	chr14:85454914-85454915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78610236	chr14:85454921-85454922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575785089	chr14:85454950-85454951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546251657	chr14:85454965-85454966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76538810	chr14:85454974-85454975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528840994	chr14:85454990-85454991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143831882	chr14:85454996-85454997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560218560	chr14:85456812-85456813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143111109	chr14:85456827-85456828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370153617	chr14:85456829-85456830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542646266	chr14:85456849-85456850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560717455	chr14:85456867-85456868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114813481	chr14:85456937-85456938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1958799	chr14:85456951-85456952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571483286	chr14:85457019-85457020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182326308	chr14:85457040-85457041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113616911	chr14:85457044-85457045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143155168	chr14:85457048-85457049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376332525	chr14:85457049-85457050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57230411	chr14:85457050-85457051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71117774	chr14:85457083-85457084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534032473	chr14:85457085-85457086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139261564	chr14:85457142-85457143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74068161	chr14:85457190-85457191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs28452509	chr14:85457407-85457408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573963126	chr14:85457472-85457473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527796680	chr14:85457549-85457550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117575022	chr14:85457609-85457610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188767147	chr14:85457624-85457625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144637702	chr14:85457647-85457648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556119856	chr14:85457698-85457699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571644984	chr14:85457705-85457706	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85454400-85455000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:85456800-85457200	Enhancers	Fetal Brain Male	brain
3	chr14:85457400-85457800	Enhancers	Fetal Brain Female	brain
4	chr14:85457600-85457800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:85464800-85465200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:85465000-85465400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:85472000-85472200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:85472200-85473000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:85473000-85473400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:85475600-85476200	Enhancers	Adipose Nuclei	Adipose
11	chr14:85482800-85483200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:85483000-85483400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:85483200-85494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:85491200-85491600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:85491200-85491600	Enhancers	Hela-S3	cervix
16	chr14:85493800-85496000	Enhancers	Fetal Brain Female	brain
17	chr14:85494000-85494600	Enhancers	Brain Germinal Matrix	brain
18	chr14:85494200-85494800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:85503400-85504600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:85504200-85507800	Enhancers	Brain Germinal Matrix	brain
21	chr14:85504200-85508200	Enhancers	Fetal Brain Male	brain
22	chr14:85505200-85505400	Enhancers	Fetal Stomach	stomach
23	chr14:85505200-85506800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:85505200-85507800	Enhancers	Fetal Brain Female	brain
25	chr14:85505400-85506400	Weak transcription	Fetal Stomach	stomach
26	chr14:85505600-85506600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:85505600-85507000	Enhancers	Fetal Lung	lung
28	chr14:85506400-85506600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:85506400-85507000	Enhancers	Fetal Muscle Leg	muscle
30	chr14:85506400-85507000	Enhancers	Fetal Stomach	stomach
31	chr14:85506400-85508200	Enhancers	Ovary	ovary
32	chr14:85506600-85506800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:85506600-85506800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:85506600-85507000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:85507000-85507200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:85507000-85509200	Weak transcription	Fetal Stomach	stomach
37	chr14:85508000-85508200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:85508200-85509800	Weak transcription	Fetal Brain Male	brain

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