Variant report

Variant	esv2758365
Chromosome Location	chr14:84136458-84293840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:366)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:84172796-84173192	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr14:84172786-84173241	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr14:84172853-84173136	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr14:84172894-84173156	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr14:84282983-84283572	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr14:84176570-84176770	K562	blood:	n/a	n/a
7	CEBPB	chr14:84259066-84259296	IMR90	lung:	n/a	n/a
8	CEBPB	chr14:84172898-84173282	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr14:84208514-84208804	A549	lung:	n/a	chr14:84208666-84208677 chr14:84208664-84208675 chr14:84208664-84208677 chr14:84208666-84208675 chr14:84208664-84208677
10	CEBPB	chr14:84281222-84281625	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:84283063-84283531	MCF-7	breast:	n/a	chr14:84283314-84283331
12	CEBPB	chr14:84275137-84275226	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr14:84282697-84283654	Hela-S3	cervix:	n/a	chr14:84283314-84283331
14	CEBPB	chr14:84291597-84291797	HepG2	liver:	n/a	n/a
15	CEBPB	chr14:84283074-84283555	IMR90	lung:	n/a	chr14:84283314-84283331
16	CEBPB	chr14:84140504-84140788	HepG2	liver:	n/a	chr14:84140637-84140646 chr14:84140636-84140647
17	CEBPB	chr14:84208489-84208827	HepG2	liver:	n/a	chr14:84208666-84208677 chr14:84208664-84208675 chr14:84208664-84208677 chr14:84208666-84208675 chr14:84208664-84208677
18	CHD1	chr14:84147164-84147188	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr14:84283032-84283605	Hela-S3	cervix:	n/a	chr14:84283292-84283299
20	CHD2	chr14:84172872-84173240	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr14:84172860-84173305	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr14:84293280-84293430	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr14:84293369-84293465	HepG2	liver:	n/a	n/a
24	CTCF	chr14:84293280-84293430	AG04450	lung:	n/a	n/a
25	CTCF	chr14:84293340-84293490	AG04449	skin:	n/a	n/a
26	CTCF	chr14:84293364-84293433	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr14:84293346-84293518	ProgFib	skin:	n/a	n/a
28	CTCF	chr14:84285567-84285645	Lung_OC	lung:	n/a	n/a
29	CTCF	chr14:84137780-84137930	NHLF	lung:	n/a	n/a
30	CTCF	chr14:84259100-84259250	HRE	kidney:	n/a	n/a
31	CTCF	chr14:84142520-84142575	GM13977	blood:	n/a	n/a
32	CTCF	chr14:84293340-84293490	HVMF	connective:	n/a	n/a
33	CTCF	chr14:84142491-84142557	ProgFib	skin:	n/a	n/a
34	CTCF	chr14:84293380-84293530	AG04450	lung:	n/a	n/a
35	CTCF	chr14:84293380-84293530	HFF	foreskin:	n/a	n/a
36	CTCF	chr14:84172940-84173090	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr14:84293440-84293590	HVMF	connective:	n/a	n/a
38	CTCF	chr14:84293340-84293490	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:84175551-84175669	GM20000	blood:	n/a	n/a
40	CTCF	chr14:84293280-84293430	HRE	kidney:	n/a	n/a
41	CTCF	chr14:84144579-84144604	GM20000	blood:	n/a	n/a
42	CTCF	chr14:84293380-84293530	HEK293	kidney:	n/a	n/a
43	CTCF	chr14:84293340-84293490	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr14:84293320-84293470	AG10803	skin:	n/a	n/a
45	CTCF	chr14:84293320-84293470	HMF	breast:	n/a	n/a
46	CTCF	chr14:84172960-84173110	HRE	kidney:	n/a	n/a
47	CTCF	chr14:84293320-84293470	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr14:84293360-84293510	AG04449	skin:	n/a	n/a
49	CTCF	chr14:84293560-84293830	BJ	skin:	n/a	n/a
50	CTCF	chr14:84293380-84293530	HPAF	blood vessel:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:84247714-84247764	BJ	skin:	n/a
2	chr14:84247714-84247764	GM12878	blood:	n/a
3	chr14:84247714-84247764	ProgFib	skin:	n/a
4	chr14:84245709-84245759	HCPEpiC	choroid plexus:	n/a
5	chr14:84247714-84247764	GM12891	blood:	n/a
6	chr14:84245709-84245759	IMR90	lung:	fetal
7	chr14:84178956-84179006	NH-A	brain:	n/a
8	chr14:84245709-84245759	GM19239	blood:	n/a
9	chr14:84173031-84173081	ProgFib	skin:	n/a
10	chr14:84173031-84173081	Jurkat	blood:	n/a
11	chr14:84245709-84245759	AG10803	skin:	n/a
12	chr14:84173031-84173081	HCF	heart:	n/a
13	chr14:84173031-84173081	GM12891	blood:	n/a
14	chr14:84245709-84245759	HCF	heart:	n/a
15	chr14:84178956-84179006	U87	brain:	n/a
16	chr14:84173031-84173081	AG09319	gingival:	n/a
17	chr14:84178956-84179006	HepG2	liver:	n/a
18	chr14:84245709-84245759	PANC-1	pancreas:	n/a
19	chr14:84173031-84173081	HMEC	breast:	n/a
20	chr14:84173031-84173081	HPAEpiC	pulmonary alveolar:	n/a
21	chr14:84178956-84179006	AG09309	skin:	n/a
22	chr14:84247714-84247764	GM12892	blood:	n/a
23	chr14:84178956-84179006	ovcar-3	ovarian:	n/a
24	chr14:84247714-84247764	PANC-1	pancreas:	n/a
25	chr14:84247714-84247764	NB4	blood:	n/a
26	chr14:84173031-84173081	LNCaP	prostate:	n/a
27	chr14:84178956-84179006	HPAEpiC	pulmonary alveolar:	n/a
28	chr14:84247714-84247764	HAEpiC	amniotic membrane:	n/a
29	chr14:84245709-84245759	GM12891	blood:	n/a
30	chr14:84178956-84179006	A549	lung:	n/a
31	chr14:84178956-84179006	NB4	blood:	n/a
32	chr14:84173031-84173081	MCF-7	breast:	n/a
33	chr14:84247714-84247764	HCM	heart:	n/a
34	chr14:84245709-84245759	AG04450	lung:	fetal
35	chr14:84173031-84173081	AG10803	skin:	n/a
36	chr14:84245709-84245759	NH-A	brain:	n/a
37	chr14:84178956-84179006	HL-60	blood:	n/a
38	chr14:84173031-84173081	AoSMC	blood vessel:	n/a
39	chr14:84245709-84245759	ProgFib	skin:	n/a
40	chr14:84173031-84173081	AG04450	lung:	fetal
41	chr14:84247714-84247764	RPTEC	kidney:	n/a
42	chr14:84173031-84173081	HepG2	liver:	n/a
43	chr14:84245709-84245759	GM06990	blood:	n/a
44	chr14:84173031-84173081	NHBE	bronchial:	n/a
45	chr14:84173031-84173081	HNPCEpiC	eye:	n/a
46	chr14:84173031-84173081	Hela-S3	cervix:	n/a
47	chr14:84247714-84247764	MCF10A-Er-Src	breast:	n/a
48	chr14:84178956-84179006	ProgFib	skin:	n/a
49	chr14:84247714-84247764	GM19239	blood:	n/a
50	chr14:84173031-84173081	ECC-1	luminal epithelium:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:84270158..84272382-chr14:84279321..84281475,2	MCF-7	breast:
2	chr14:84265936..84268639-chr14:84272192..84273825,2	MCF-7	breast:
3	chr14:84282789..84284705-chr14:84293258..84295576,2	MCF-7	breast:
4	chr14:84292171..84294967-chr14:84304477..84306889,2	MCF-7	breast:
5	chr14:84282789..84284705-chr14:84293258..84295576,2	MCF-7	breast:
6	chr14:84265936..84268639-chr14:84272192..84273825,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258549	TF binding region
RNU6ATAC28P	TF binding region
ENSG00000258549	CpG island
RNU6ATAC28P	CpG island
ENSG00000258549	chromatin interactions

Extended variants
information (count: 1745 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1745 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555940704	chr14:84136498-84136499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201380056	chr14:84136503-84136504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534549315	chr14:84136536-84136537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79703807	chr14:84136554-84136555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189089563	chr14:84136563-84136564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566949871	chr14:84136571-84136572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs8004414	chr14:84136593-84136594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577385648	chr14:84136601-84136602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181706649	chr14:84136673-84136674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs955618	chr14:84136674-84136675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187580812	chr14:84136736-84136737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572244132	chr14:84136740-84136741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542956857	chr14:84136742-84136743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs955619	chr14:84136778-84136779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116004856	chr14:84136807-84136808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191909074	chr14:84136808-84136809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562993954	chr14:84136816-84136817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560993408	chr14:84136853-84136854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533527911	chr14:84136865-84136866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149820358	chr14:84136876-84136877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560783605	chr14:84136887-84136888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182248360	chr14:84136921-84136922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4630475	chr14:84136936-84136937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549298049	chr14:84136938-84136939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374678835	chr14:84136992-84136993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs756158	chr14:84137055-84137056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545718447	chr14:84137137-84137138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5810147	chr14:84137160-84137161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1611012	chr14:84137161-84137162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200198496	chr14:84137162-84137163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549421946	chr14:84137173-84137174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571265942	chr14:84137180-84137181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529699052	chr14:84137187-84137188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553683390	chr14:84137285-84137286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140607417	chr14:84137288-84137289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536535383	chr14:84137306-84137307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554918604	chr14:84137322-84137323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145692863	chr14:84137323-84137324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111370289	chr14:84137362-84137363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74448432	chr14:84137422-84137423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146537884	chr14:84137456-84137457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149144937	chr14:84137470-84137471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1241909	chr14:84137495-84137496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560502709	chr14:84137514-84137515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368581362	chr14:84137577-84137578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115324524	chr14:84137815-84137816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141809449	chr14:84137835-84137836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374788037	chr14:84137888-84137889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532089848	chr14:84137910-84137911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150140006	chr14:84137956-84137957	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84129400-84137600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:84137800-84138000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:84144400-84145000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:84145200-84147200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:84147200-84147400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:84163400-84164400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:84163400-84164600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:84163800-84164200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:84164000-84164600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:84164200-84164600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:84164200-84164800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:84164200-84165000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:84171000-84171200	Enhancers	Fetal Brain Male	brain
14	chr14:84171200-84172600	Weak transcription	Fetal Brain Male	brain
15	chr14:84171400-84173400	Enhancers	Ovary	ovary
16	chr14:84171800-84174200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr14:84172200-84173400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:84172200-84173800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:84172200-84174200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:84172200-84174400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:84172400-84173400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:84172400-84173800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:84172600-84173200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:84172600-84173400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:84172600-84173400	Enhancers	Fetal Brain Male	brain
26	chr14:84172800-84173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:84173000-84173400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:84173000-84173400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:84173000-84173400	Enhancers	Brain Germinal Matrix	brain
30	chr14:84173000-84173400	Enhancers	Fetal Brain Female	brain
31	chr14:84173000-84173600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr14:84173000-84174400	Enhancers	HUVEC	blood vessel
33	chr14:84173200-84173600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr14:84173200-84174400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:84173400-84176400	Weak transcription	Fetal Brain Male	brain
36	chr14:84173400-84177800	Weak transcription	Fetal Brain Female	brain
37	chr14:84173400-84178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:84173400-84180000	Weak transcription	Ovary	ovary
39	chr14:84173600-84173800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr14:84175200-84175600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:84175200-84176200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:84175800-84176400	Enhancers	NHEK	skin
43	chr14:84176400-84178000	Enhancers	Fetal Brain Male	brain
44	chr14:84177800-84178400	Enhancers	Fetal Brain Female	brain
45	chr14:84178000-84178800	Weak transcription	Fetal Brain Male	brain
46	chr14:84178400-84179600	Weak transcription	Fetal Brain Female	brain
47	chr14:84178600-84178800	Enhancers	Fetal Heart	heart
48	chr14:84178600-84179200	Enhancers	Fetal Lung	lung
49	chr14:84178600-84179200	Enhancers	Fetal Stomach	stomach
50	chr14:84178800-84179000	Enhancers	Fetal Brain Male	brain

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