Variant report

Variant	nsv1051581
Chromosome Location	chr14:82829319-83051904
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	chr14:82989023-82989130	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:82976424-82976643	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr14:82881333-82881522	GM12878	blood:	n/a	n/a
5	BATF	chr14:82881363-82881568	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:82967938-82967977	GM12878	blood:	n/a	n/a
7	CEBPB	chr14:82886345-82886597	H1-hESC	embryonic stem cell:	n/a	chr14:82886443-82886454
8	CEBPB	chr14:82889734-82889775	A549	lung:	n/a	n/a
9	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
10	CEBPB	chr14:82969531-82969682	A549	lung:	n/a	chr14:82969549-82969560 chr14:82969619-82969632 chr14:82969549-82969560
11	CEBPB	chr14:82886418-82886519	HepG2	liver:	n/a	chr14:82886443-82886454
12	CEBPB	chr14:82976183-82976603	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr14:83043272-83043502	A549	lung:	n/a	n/a
14	CEBPB	chr14:82911815-82912082	IMR90	lung:	n/a	n/a
15	CEBPB	chr14:82832481-82832741	A549	lung:	n/a	chr14:82832632-82832643
16	CEBPB	chr14:82888683-82888993	HepG2	liver:	n/a	chr14:82888825-82888838 chr14:82888827-82888836 chr14:82888825-82888838 chr14:82888827-82888838 chr14:82888825-82888836
17	CEBPB	chr14:82832465-82832762	HepG2	liver:	n/a	chr14:82832632-82832643
18	CEBPB	chr14:82888690-82888971	A549	lung:	n/a	chr14:82888825-82888838 chr14:82888827-82888836 chr14:82888825-82888838 chr14:82888827-82888838 chr14:82888825-82888836
19	CEBPB	chr14:82892605-82892805	HepG2	liver:	n/a	chr14:82892674-82892685 chr14:82892682-82892695 chr14:82892684-82892695
20	CEBPB	chr14:82888664-82888966	IMR90	lung:	n/a	chr14:82888825-82888838 chr14:82888827-82888836 chr14:82888825-82888838 chr14:82888827-82888838 chr14:82888825-82888836
21	CHD2	chr14:82976216-82976637	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr14:82833249-82833414	LNCaP	prostate:	n/a	n/a
23	CTCF	chr14:82833220-82833370	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr14:82833262-82833422	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:82913940-82914090	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr14:83000151-83000180	GM20000	blood:	n/a	n/a
27	CTCF	chr14:82833280-82833430	HEK293	kidney:	n/a	n/a
28	CTCF	chr14:82833320-82833359	GM20000	blood:	n/a	n/a
29	CTCF	chr14:82833287-82833408	GM13977	blood:	n/a	n/a
30	CTCF	chr14:82833198-82833475	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:83035229-83035235	LNCaP	prostate:	n/a	n/a
32	CTCF	chr14:82833132-82833535	GM12878	blood:	n/a	n/a
33	CTCF	chr14:82913940-82914090	Caco-2	colon:	n/a	n/a
34	CTCF	chr14:82914142-82914155	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:82953387-82953481	LNCaP	prostate:	n/a	n/a
36	CTCF	chr14:82833260-82833410	Caco-2	colon:	n/a	n/a
37	CTCF	chr14:82833332-82833341	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr14:82833300-82833450	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:83040568-83040664	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr14:82913940-82914090	HRE	kidney:	n/a	n/a
41	CTCF	chr14:82856087-82856095	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:82833300-82833450	GM12872	blood:	n/a	n/a
43	CTCF	chr14:83008232-83008306	LNCaP	prostate:	n/a	n/a
44	CTCF	chr14:82833230-82833446	LNCaP	prostate:	n/a	n/a
45	CTCF	chr14:82833240-82833390	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr14:82914051-82914155	Medullo	brain:	n/a	n/a
47	CTCF	chr14:82833220-82833370	HEK293	kidney:	n/a	n/a
48	CTCF	chr14:82833200-82833350	Caco-2	colon:	n/a	n/a
49	CTCF	chr14:82913880-82914030	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:82914060-82914210	Caco-2	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:82864434-82864484	GM12892	blood:	n/a
2	chr14:82864434-82864484	HIPEpiC	eye:	n/a
3	chr14:82864434-82864484	GM12891	blood:	n/a
4	chr14:82864434-82864484	BJ	skin:	n/a
5	chr14:82864434-82864484	PFSK-1	brain:	n/a
6	chr14:82864434-82864484	AG04450	lung:	fetal
7	chr14:82864434-82864484	SKMC	muscle:	n/a
8	chr14:82864434-82864484	HCPEpiC	choroid plexus:	n/a
9	chr14:82864434-82864484	Hepatocyte	liver:	n/a
10	chr14:82864434-82864484	MCF10A-Er-Src	breast:	n/a
11	chr14:82864434-82864484	PANC-1	pancreas:	n/a
12	chr14:82864434-82864484	HCT-116	colon:	n/a
13	chr14:82864434-82864484	NT2-D1	testis:	n/a
14	chr14:82864434-82864484	SK-N-SH	brain:	n/a
15	chr14:82864434-82864484	SAEC	small airway:	n/a
16	chr14:82864434-82864484	GM06990	blood:	n/a
17	chr14:82864434-82864484	Hela-S3	cervix:	n/a
18	chr14:82864434-82864484	NHBE	bronchial:	n/a
19	chr14:82864434-82864484	K562	blood:	n/a
20	chr14:82864434-82864484	HRCEpiC	kidney:	n/a
21	chr14:82864434-82864484	AG04449	skin:	fetal
22	chr14:82864434-82864484	U87	brain:	n/a
23	chr14:82864434-82864484	HUVEC	blood vessel:	n/a
24	chr14:82864434-82864484	CMK	blood:	n/a
25	chr14:82864434-82864484	Jurkat	blood:	n/a
26	chr14:82864434-82864484	GM12878	blood:	n/a
27	chr14:82864434-82864484	ProgFib	skin:	n/a
28	chr14:82864434-82864484	HRE	kidney:	n/a
29	chr14:82864434-82864484	SK-N-MC	brain:	n/a
30	chr14:82864434-82864484	PrEC	prostate:	n/a
31	chr14:82864434-82864484	HPAEpiC	pulmonary alveolar:	n/a
32	chr14:82864434-82864484	NHDF-neo	bronchial:	n/a
33	chr14:82864434-82864484	MCF-7	breast:	n/a
34	chr14:82864434-82864484	NH-A	brain:	n/a
35	chr14:82864434-82864484	RPTEC	kidney:	n/a
36	chr14:82864434-82864484	HCM	heart:	n/a
37	chr14:82864434-82864484	ECC-1	luminal epithelium:	n/a
38	chr14:82864434-82864484	SK-N-SH_RA	brain:	n/a
39	chr14:82864434-82864484	HRPEpiC	eye:	n/a
40	chr14:82864434-82864484	HEK293	kidney:	embryo
41	chr14:82864434-82864484	HMEC	breast:	n/a
42	chr14:82864434-82864484	HEEpiC	esophagus:	n/a
43	chr14:82864434-82864484	HAEpiC	amniotic membrane:	n/a
44	chr14:82864434-82864484	Caco-2	colon:	n/a
45	chr14:82864434-82864484	T-47D	breast:	n/a
46	chr14:82864434-82864484	BE2_C	brain:	n/a
47	chr14:82864434-82864484	NB4	blood:	n/a
48	chr14:82864434-82864484	AG09319	gingival:	n/a
49	chr14:82864434-82864484	AG10803	skin:	n/a
50	chr14:82864434-82864484	AG09309	skin:	n/a

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

Variant related genes	Relation type
ENSG00000238978	TF binding region
ENSG00000238978	CpG island

Extended variants
information (count: 2412 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2412 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17667334	chr14:82829319-82829320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115525195	chr14:82829332-82829333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538398806	chr14:82829334-82829335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556500297	chr14:82829344-82829345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112594365	chr14:82829346-82829347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117474790	chr14:82850209-82850210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187457804	chr14:82850216-82850217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527353883	chr14:82850229-82850230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150757227	chr14:82850230-82850231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192561220	chr14:82850255-82850256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550840694	chr14:82850277-82850278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534181045	chr14:82850345-82850346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555341964	chr14:82850347-82850348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113722709	chr14:82850351-82850352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567365926	chr14:82850370-82850371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565380461	chr14:82853616-82853617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370445583	chr14:82853638-82853639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577728723	chr14:82853641-82853642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187008069	chr14:82853660-82853661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374985747	chr14:82853693-82853694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200092420	chr14:82853818-82853819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576028772	chr14:82853825-82853826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192247139	chr14:82853896-82853897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117081477	chr14:82853905-82853906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558844978	chr14:82853930-82853931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182757584	chr14:82853940-82853941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74068908	chr14:82853951-82853952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560078493	chr14:82853974-82853975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530149029	chr14:82853997-82853998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112092268	chr14:82854022-82854023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563824888	chr14:82854023-82854024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530872462	chr14:82854044-82854045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113665993	chr14:82854049-82854050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375673526	chr14:82854071-82854072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147109157	chr14:82854075-82854076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138332241	chr14:82854083-82854084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532168647	chr14:82854157-82854158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114662305	chr14:82854169-82854170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200241510	chr14:82854176-82854177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543829141	chr14:82854177-82854178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565617130	chr14:82854252-82854253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190369875	chr14:82854438-82854439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117224574	chr14:82854446-82854447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574085385	chr14:82854514-82854515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141835908	chr14:82854548-82854549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182541986	chr14:82854563-82854564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187585686	chr14:82854631-82854632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558681460	chr14:82854741-82854742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368457376	chr14:82854754-82854755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1152419	chr14:82854804-82854805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82828200-82829400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:82829000-82829400	Enhancers	Adipose Nuclei	Adipose
3	chr14:82829000-82829400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:82850200-82850400	Enhancers	Gastric	stomach
5	chr14:82853600-82855200	Enhancers	Brain Substantia Nigra	brain
6	chr14:82853600-82855400	Enhancers	Brain Anterior Caudate	brain
7	chr14:82853800-82855200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:82854000-82854600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:82854000-82855400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:82854200-82855000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:82854200-82855400	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:82854200-82856000	Enhancers	Brain Hippocampus Middle	brain
13	chr14:82854400-82855800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:82854400-82856200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:82854800-82855400	Enhancers	Aorta	Aorta
16	chr14:82855000-82855200	Enhancers	Brain Angular Gyrus	brain
17	chr14:82855200-82855400	Enhancers	Pancreas	Pancrea
18	chr14:82855400-82856000	Weak transcription	Aorta	Aorta
19	chr14:82855400-82860800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:82855400-82864800	Weak transcription	Pancreas	Pancrea
21	chr14:82856000-82856200	Enhancers	Aorta	Aorta
22	chr14:82856200-82864600	Weak transcription	Aorta	Aorta
23	chr14:82860800-82862000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:82862800-82863400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:82862800-82865000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr14:82863000-82863200	Enhancers	Brain Angular Gyrus	brain
27	chr14:82863000-82863400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:82863000-82863600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:82863200-82864400	Weak transcription	Brain Angular Gyrus	brain
30	chr14:82863400-82863600	Enhancers	Ovary	ovary
31	chr14:82863400-82864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:82863400-82864800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:82863600-82864000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:82863600-82864400	Enhancers	Brain Substantia Nigra	brain
35	chr14:82864000-82864400	Enhancers	Brain Hippocampus Middle	brain
36	chr14:82864000-82865000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:82864200-82864400	Enhancers	Stomach Smooth Muscle	stomach
38	chr14:82864400-82864600	Enhancers	Fetal Lung	lung
39	chr14:82864400-82864600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr14:82864400-82865000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr14:82864400-82865200	Enhancers	Brain Angular Gyrus	brain
42	chr14:82864400-82865200	Active TSS	Ovary	ovary
43	chr14:82864600-82864800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:82864600-82864800	Flanking Active TSS	Aorta	Aorta
45	chr14:82864600-82865000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:82864600-82865000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:82864600-82865000	Active TSS	Brain Anterior Caudate	brain
48	chr14:82864600-82865000	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr14:82864600-82865000	Active TSS	Rectal Smooth Muscle	rectum
50	chr14:82864600-82865200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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