Variant report

Variant	nsv832842
Chromosome Location	chr14:82871181-83054768
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	chr14:82966555-82966709	K562	blood:	n/a	n/a
2	BACH1	chr14:82976424-82976643	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:82989023-82989130	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr14:82881363-82881568	GM12878	blood:	n/a	n/a
5	BATF	chr14:82881333-82881522	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:82967938-82967977	GM12878	blood:	n/a	n/a
7	CEBPB	chr14:82911815-82912082	IMR90	lung:	n/a	n/a
8	CEBPB	chr14:82888664-82888966	IMR90	lung:	n/a	chr14:82888825-82888838 chr14:82888827-82888836 chr14:82888825-82888838 chr14:82888827-82888838 chr14:82888825-82888836
9	CEBPB	chr14:82886345-82886597	H1-hESC	embryonic stem cell:	n/a	chr14:82886443-82886454
10	CEBPB	chr14:82888647-82888996	H1-hESC	embryonic stem cell:	n/a	chr14:82888825-82888838 chr14:82888827-82888836 chr14:82888825-82888838 chr14:82888827-82888838 chr14:82888825-82888836
11	CEBPB	chr14:82889734-82889775	A549	lung:	n/a	n/a
12	CEBPB	chr14:82969531-82969682	A549	lung:	n/a	chr14:82969549-82969560 chr14:82969619-82969632 chr14:82969549-82969560
13	CEBPB	chr14:82888690-82888971	A549	lung:	n/a	chr14:82888825-82888838 chr14:82888827-82888836 chr14:82888825-82888838 chr14:82888827-82888838 chr14:82888825-82888836
14	CEBPB	chr14:82886418-82886519	HepG2	liver:	n/a	chr14:82886443-82886454
15	CEBPB	chr14:82976183-82976603	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr14:82892605-82892805	HepG2	liver:	n/a	chr14:82892674-82892685 chr14:82892682-82892695 chr14:82892684-82892695
17	CEBPB	chr14:83043272-83043502	A549	lung:	n/a	n/a
18	CEBPB	chr14:82888683-82888993	HepG2	liver:	n/a	chr14:82888825-82888838 chr14:82888827-82888836 chr14:82888825-82888838 chr14:82888827-82888838 chr14:82888825-82888836
19	CHD2	chr14:82976216-82976637	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr14:82914040-82914190	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr14:82914080-82914230	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr14:82913940-82914090	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr14:83003699-83003737	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr14:82914060-82914210	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr14:82953387-82953481	LNCaP	prostate:	n/a	n/a
26	CTCF	chr14:82914051-82914155	Medullo	brain:	n/a	n/a
27	CTCF	chr14:82923560-82923710	GM06990	blood:	n/a	n/a
28	CTCF	chr14:83008878-83008894	LNCaP	prostate:	n/a	n/a
29	CTCF	chr14:82913880-82914030	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:82914142-82914155	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:82914040-82914190	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr14:82913940-82914090	Caco-2	colon:	n/a	n/a
33	CTCF	chr14:82913981-82914221	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr14:83007561-83007605	GM13977	blood:	n/a	n/a
35	CTCF	chr14:82913940-82914090	HRE	kidney:	n/a	n/a
36	CTCF	chr14:83043049-83043085	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr14:83000151-83000180	GM20000	blood:	n/a	n/a
38	CTCF	chr14:83040568-83040664	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr14:82914060-82914210	Caco-2	colon:	n/a	n/a
40	CTCF	chr14:83008232-83008306	LNCaP	prostate:	n/a	n/a
41	CTCF	chr14:83035229-83035235	LNCaP	prostate:	n/a	n/a
42	CUX1	chr14:82925702-82925815	GM12878	blood:	n/a	n/a
43	CUX1	chr14:82904668-82904748	GM12878	blood:	n/a	n/a
44	E2F4	chr14:83015586-83015749	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr14:82897231-82897232	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr14:83044631-83045125	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr14:82878361-82878389	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr14:83027631-83027720	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr14:83023733-83023849	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr14:82916859-82916954	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:82893770..82895918-chr14:82898718..82900668,2	K562	blood:
2	chr14:83010856..83013980-chr14:83015159..83018295,3	K562	blood:
3	chr14:83010856..83013980-chr14:83015159..83018295,3	K562	blood:
4	chr14:82893770..82895918-chr14:82898718..82900668,2	K562	blood:

Variant related genes	Relation type
ENSG00000238978	TF binding region

Extended variants
information (count: 1984 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1984 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534673404	chr14:82877201-82877202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553067811	chr14:82877202-82877203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574552097	chr14:82877206-82877207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113072955	chr14:82877292-82877293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10129423	chr14:82877309-82877310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576140750	chr14:82877335-82877336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7494708	chr14:82877388-82877389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73346505	chr14:82877440-82877441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566786318	chr14:82877459-82877460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571354091	chr14:82877473-82877474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112605736	chr14:82877475-82877476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539878316	chr14:82877507-82877508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183589907	chr14:82877512-82877513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150830542	chr14:82877513-82877514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541934055	chr14:82877528-82877529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1379677	chr14:82877566-82877567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139242453	chr14:82877597-82877598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543865309	chr14:82877668-82877669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552859457	chr14:82877764-82877765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112865402	chr14:82877807-82877808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571025524	chr14:82877815-82877816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150018554	chr14:82877836-82877837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546543446	chr14:82877841-82877842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568112395	chr14:82877847-82877848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375232705	chr14:82877908-82877909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187179582	chr14:82877940-82877941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113742592	chr14:82877999-82878000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117246322	chr14:82878040-82878041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569853266	chr14:82878045-82878046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191596057	chr14:82878061-82878062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530964346	chr14:82878085-82878086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558823682	chr14:82878226-82878227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61287410	chr14:82878277-82878278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371157563	chr14:82878307-82878308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566946106	chr14:82878308-82878309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56913568	chr14:82878322-82878323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577159662	chr14:82878395-82878396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77736785	chr14:82878453-82878454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553042585	chr14:82878494-82878495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187043036	chr14:82881414-82881415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112246142	chr14:82881445-82881446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570078045	chr14:82881457-82881458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537609845	chr14:82881498-82881499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138938668	chr14:82881506-82881507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561768795	chr14:82881525-82881526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537511476	chr14:82881541-82881542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529064018	chr14:82881550-82881551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76780883	chr14:82881572-82881573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569092767	chr14:82881596-82881597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191383235	chr14:82881642-82881643	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82877200-82878200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:82877400-82877800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:82877400-82878000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:82877400-82878200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:82877400-82878600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:82877600-82878200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:82877600-82878200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:82877600-82878200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:82877600-82878200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:82881400-82882000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:82886000-82886400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:82886600-82887600	Enhancers	Adipose Nuclei	Adipose
13	chr14:82887600-82888600	Weak transcription	Adipose Nuclei	Adipose
14	chr14:82888000-82888600	Enhancers	Fetal Brain Male	brain
15	chr14:82888000-82889200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:82888200-82890200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:82888600-82888800	Enhancers	Adipose Nuclei	Adipose
18	chr14:82888600-82888800	Enhancers	Brain Germinal Matrix	brain
19	chr14:82888600-82889000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:82888600-82898200	Weak transcription	Fetal Brain Male	brain
21	chr14:82888800-82889400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:82888800-82889400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:82891200-82891400	Enhancers	Brain Germinal Matrix	brain
24	chr14:82891400-82892000	Weak transcription	Brain Germinal Matrix	brain
25	chr14:82892000-82892200	Enhancers	Brain Germinal Matrix	brain
26	chr14:82897400-82899800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:82897400-82899800	Enhancers	Brain Germinal Matrix	brain
28	chr14:82897400-82900800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:82897800-82898400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:82897800-82899000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr14:82897800-82900800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr14:82898000-82898600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:82898000-82898800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr14:82898000-82899600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:82898200-82898400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr14:82898200-82898600	Enhancers	Fetal Brain Male	brain
37	chr14:82898200-82899000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:82898200-82899400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:82898200-82899600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:82898200-82899600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:82898400-82899200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:82898600-82899000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr14:82898600-82899400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:82898600-82899400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr14:82899000-82899400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr14:82899000-82899400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:82899000-82900200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:82899200-82899600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr14:82899200-82899600	Enhancers	Brain Substantia Nigra	brain
50	chr14:82899600-82900600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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