Variant report

Variant	nsv525823
Chromosome Location	chr14:82219550-82267945
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	chr14:82222336-82222595	K562	blood:	n/a	n/a
2	CEBPB	chr14:82240243-82240541	MCF-7	breast:	n/a	n/a
3	CEBPB	chr14:82261656-82261743	HepG2	liver:	n/a	chr14:82261728-82261741 chr14:82261728-82261741 chr14:82261730-82261741
4	CEBPB	chr14:82223192-82223412	HepG2	liver:	n/a	chr14:82223312-82223323
5	CEBPB	chr14:82234938-82235036	A549	lung:	n/a	chr14:82234961-82234970 chr14:82234959-82234970
6	CTCF	chr14:82257198-82257258	GM20000	blood:	n/a	n/a
7	CTCF	chr14:82259963-82259994	GM13976	blood:	n/a	n/a
8	CTCF	chr14:82244360-82244510	GM12865	blood:	n/a	n/a
9	CTCF	chr14:82237855-82237897	LNCaP	prostate:	n/a	n/a
10	CTCF	chr14:82250520-82250670	GM12869	blood:	n/a	n/a
11	CTCF	chr14:82223515-82223550	Lung_OC	lung:	n/a	n/a
12	CUX1	chr14:82222336-82222540	K562	blood:	n/a	n/a
13	E2F4	chr14:82263366-82263367	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:82249138-82249439	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr14:82249140-82249396	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr14:82250568-82250829	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr14:82249133-82249415	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr14:82232057-82232228	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr14:82250587-82250845	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr14:82250568-82250864	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr14:82250593-82250847	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr14:82249148-82249426	MCF10A-Er-Src	breast:	n/a	n/a
23	FOXA1	chr14:82248117-82248626	HepG2	liver:	n/a	n/a
24	FOXA2	chr14:82248206-82248432	HepG2	liver:	n/a	n/a
25	FOXA2	chr14:82248195-82248577	A549	lung:	n/a	n/a
26	FOXA2	chr14:82248190-82248556	A549	lung:	n/a	n/a
27	GATA3	chr14:82232382-82232628	T-47D	breast:	n/a	n/a
28	GATA3	chr14:82240112-82240651	MCF-7	breast:	n/a	n/a
29	JUND	chr14:82263576-82263656	HepG2	liver:	n/a	n/a
30	JUND	chr14:82222335-82222404	K562	blood:	n/a	n/a
31	MAFF	chr14:82246614-82246943	K562	blood:	n/a	chr14:82246780-82246798
32	MAFF	chr14:82246606-82246974	HepG2	liver:	n/a	chr14:82246780-82246798
33	MAFF	chr14:82233888-82234104	HepG2	liver:	n/a	n/a
34	MAFK	chr14:82246633-82246904	H1-hESC	embryonic stem cell:	n/a	chr14:82246782-82246797
35	MAFK	chr14:82252092-82252299	HepG2	liver:	n/a	chr14:82252164-82252184 chr14:82252162-82252176 chr14:82252164-82252175
36	MAFK	chr14:82246622-82246970	HepG2	liver:	n/a	chr14:82246782-82246797
37	MAFK	chr14:82246580-82246880	GM12878	blood:	n/a	chr14:82246782-82246797
38	MAFK	chr14:82233931-82234131	HepG2	liver:	n/a	n/a
39	MAFK	chr14:82246615-82246950	K562	blood:	n/a	chr14:82246782-82246797
40	MAFK	chr14:82252130-82252221	HepG2	liver:	n/a	chr14:82252164-82252184 chr14:82252162-82252176 chr14:82252164-82252175
41	MAFK	chr14:82246605-82246974	IMR90	lung:	n/a	chr14:82246782-82246797
42	MAFK	chr14:82233824-82234094	HepG2	liver:	n/a	n/a
43	MAFK	chr14:82246630-82246912	Hela-S3	cervix:	n/a	chr14:82246782-82246797
44	MAFK	chr14:82246607-82246977	HepG2	liver:	n/a	chr14:82246782-82246797
45	MAX	chr14:82232941-82233226	NB4	blood:	n/a	n/a
46	MYC	chr14:82238599-82238603	NB4	blood:	n/a	n/a
47	MYC	chr14:82250307-82250429	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr14:82249206-82249378	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr14:82250543-82250784	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr14:82250579-82250824	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:82254990..82256625-chr14:82266793..82269295,2	K562	blood:
2	chr14:82254990..82256625-chr14:82266793..82269295,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEL1L-12	chr14:82243360-82243957	NONHSAT038076

Variant related genes	Relation type
ENSG00000241891	TF binding region

Extended variants
information (count: 1457 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1457 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546216041	chr14:82224200-82224201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564133454	chr14:82224201-82224202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149412552	chr14:82224218-82224219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189182648	chr14:82224241-82224242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11159514	chr14:82224282-82224283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529460392	chr14:82224309-82224310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78669024	chr14:82224352-82224353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28581273	chr14:82224401-82224402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569765697	chr14:82224409-82224410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144773280	chr14:82224413-82224414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553603439	chr14:82224424-82224425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371309271	chr14:82224437-82224438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573119484	chr14:82224444-82224445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558632556	chr14:82224508-82224509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74067213	chr14:82224560-82224561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572351782	chr14:82224582-82224583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534927874	chr14:82224600-82224601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116018888	chr14:82231808-82231809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9323710	chr14:82231822-82231823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551343727	chr14:82231838-82231839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535307879	chr14:82231859-82231860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556700640	chr14:82231872-82231873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563303041	chr14:82231877-82231878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8014300	chr14:82231895-82231896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs8013908	chr14:82231936-82231937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557771769	chr14:82231937-82231938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573141085	chr14:82231969-82231970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9323711	chr14:82232045-82232046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs151327027	chr14:82232047-82232048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368099492	chr14:82232100-82232101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs8019400	chr14:82232104-82232105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138002550	chr14:82232106-82232107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563025675	chr14:82232107-82232108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530670207	chr14:82232121-82232122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545903167	chr14:82232129-82232130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564140381	chr14:82232292-82232293	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142585844	chr14:82232356-82232357	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs112419325	chr14:82232360-82232361	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111775416	chr14:82232383-82232384	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558253622	chr14:82232426-82232427	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139385064	chr14:82232430-82232431	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377004836	chr14:82232437-82232438	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184770039	chr14:82232462-82232463	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568704622	chr14:82232469-82232470	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs141583908	chr14:82232493-82232494	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557808579	chr14:82232541-82232542	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566930841	chr14:82232555-82232556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533956489	chr14:82232603-82232604	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555691929	chr14:82232641-82232642	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs56402641	chr14:82232648-82232649	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82224200-82224600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:82231800-82232200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr14:82231800-82233200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:82231800-82234200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:82231800-82234400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:82231800-82235000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:82232000-82234200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:82232200-82233000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:82232200-82233800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:82232200-82234200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:82232200-82234200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:82232800-82233200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:82232800-82234200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:82233000-82233600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:82233000-82234000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:82233000-82235000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr14:82233600-82234600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:82234200-82237200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:82234200-82237800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:82234600-82234800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:82235000-82237000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:82237000-82237200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr14:82237200-82239800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:82237200-82239800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:82237800-82238200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:82237800-82239200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr14:82238200-82238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:82238400-82238800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:82238800-82242000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:82240200-82241000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:82241000-82248000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:82243600-82243800	Enhancers	Aorta	Aorta
33	chr14:82243800-82250200	Weak transcription	Aorta	Aorta
34	chr14:82245600-82249800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:82247600-82249400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr14:82247800-82248000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr14:82247800-82248600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr14:82248000-82248200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
39	chr14:82248000-82248400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:82248400-82253400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:82248600-82248800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr14:82248600-82248800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr14:82248600-82249400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:82248800-82249000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:82249000-82251200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:82249400-82249800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:82249400-82249800	Enhancers	Adipose Nuclei	Adipose
48	chr14:82249800-82251200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:82250200-82250400	Enhancers	Aorta	Aorta
50	chr14:82253000-82253800	Enhancers	Placenta Amnion	Placenta Amnion

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