Variant report

Variant	nsv563845
Chromosome Location	chr14:20684277-20712322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:428)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:20687217-20687569	K562	blood:	n/a	chr14:20687387-20687401
2	BACH1	chr14:20687322-20687431	H1-hESC	embryonic stem cell:	n/a	chr14:20687387-20687401
3	CTCF	chr14:20693340-20693490	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr14:20693377-20693449	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:20685283-20685287	Gliobla	brain:	n/a	n/a
6	CTCF	chr14:20693300-20693450	K562	blood:	n/a	n/a
7	CTCF	chr14:20685120-20685270	GM12864	blood:	n/a	n/a
8	CTCF	chr14:20685338-20685353	GM12891	blood:	n/a	n/a
9	CTCF	chr14:20693398-20693471	HepG2	liver:	n/a	n/a
10	CTCF	chr14:20693400-20693550	HepG2	liver:	n/a	n/a
11	CTCF	chr14:20685120-20685270	GM12872	blood:	n/a	n/a
12	CTCF	chr14:20685274-20685372	GM19239	blood:	n/a	n/a
13	CTCF	chr14:20685120-20685270	BE2_C	brain:	n/a	n/a
14	CTCF	chr14:20685200-20685350	SAEC	small airway:	n/a	n/a
15	CTCF	chr14:20685210-20685366	A549	lung:	n/a	n/a
16	CTCF	chr14:20685100-20685250	GM12864	blood:	n/a	n/a
17	CTCF	chr14:20685308-20685335	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:20685157-20685437	A549	lung:	n/a	n/a
19	CTCF	chr14:20685287-20685326	GM12891	blood:	n/a	n/a
20	CTCF	chr14:20685288-20685357	Gliobla	brain:	n/a	n/a
21	CTCF	chr14:20685292-20685314	GM10248	blood:	n/a	n/a
22	CTCF	chr14:20685100-20685250	GM12868	blood:	n/a	n/a
23	CTCF	chr14:20685120-20685270	GM12867	blood:	n/a	n/a
24	CTCF	chr14:20685340-20685490	GM12868	blood:	n/a	n/a
25	CTCF	chr14:20685238-20685511	K562	blood:	n/a	n/a
26	CTCF	chr14:20685180-20685330	SAEC	small airway:	n/a	n/a
27	CTCF	chr14:20685218-20685434	A549	lung:	n/a	n/a
28	CTCF	chr14:20685180-20685330	AG10803	skin:	n/a	n/a
29	CTCF	chr14:20685300-20685338	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:20693280-20693430	HepG2	liver:	n/a	n/a
31	CTCF	chr14:20685100-20685250	BE2_C	brain:	n/a	n/a
32	CTCF	chr14:20685185-20685468	K562	blood:	n/a	n/a
33	CTCF	chr14:20693380-20693530	A549	lung:	n/a	n/a
34	CTCF	chr14:20693369-20693508	HepG2	liver:	n/a	n/a
35	CTCF	chr14:20693420-20693570	A549	lung:	n/a	n/a
36	CTCF	chr14:20693378-20693513	K562	blood:	n/a	n/a
37	CTCF	chr14:20685180-20685330	HMF	breast:	n/a	n/a
38	CTCF	chr14:20685067-20685507	K562	blood:	n/a	n/a
39	CTCF	chr14:20693327-20693537	K562	blood:	n/a	n/a
40	CTCF	chr14:20685225-20685399	A549	lung:	n/a	n/a
41	CTCF	chr14:20685140-20685290	GM12864	blood:	n/a	n/a
42	E2F4	chr14:20708290-20708387	MCF10A-Er-Src	breast:	n/a	n/a
43	FAM48A	chr14:20712008-20712143	GM12878	blood:	n/a	n/a
44	FAM48A	chr14:20696009-20696109	GM12878	blood:	n/a	n/a
45	FOS	chr14:20687306-20687536	MCF10A-Er-Src	breast:	n/a	chr14:20687390-20687397 chr14:20687390-20687398 chr14:20687389-20687399 chr14:20687388-20687400 chr14:20687390-20687398
46	FOS	chr14:20687326-20687475	MCF10A-Er-Src	breast:	n/a	chr14:20687390-20687397 chr14:20687390-20687398 chr14:20687389-20687399 chr14:20687388-20687400 chr14:20687390-20687398
47	FOS	chr14:20687258-20687486	MCF10A-Er-Src	breast:	n/a	chr14:20687390-20687397 chr14:20687390-20687398 chr14:20687389-20687399 chr14:20687388-20687400 chr14:20687390-20687398
48	FOS	chr14:20687275-20687447	MCF10A-Er-Src	breast:	n/a	chr14:20687390-20687397 chr14:20687390-20687398 chr14:20687389-20687399 chr14:20687388-20687400 chr14:20687390-20687398
49	FOXA1	chr14:20703774-20704175	HepG2	liver:	n/a	n/a
50	FOXA2	chr14:20703622-20704214	A549	lung:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20710315-20710365	MCF-7	breast:	n/a
2	chr14:20710315-20710365	MCF-7	breast:	n/a
3	chr14:20691777-20691827	HCM	heart:	n/a
4	chr14:20710881-20710931	NHBE	bronchial:	n/a
5	chr14:20710881-20710931	NHDF-neo	bronchial:	n/a
6	chr14:20692622-20692672	SKMC	muscle:	n/a
7	chr14:20710905-20710955	HEK293	kidney:	embryo
8	chr14:20711344-20711394	Hela-S3	cervix:	n/a
9	chr14:20710315-20710365	CMK	blood:	n/a
10	chr14:20691777-20691827	AG10803	skin:	n/a
11	chr14:20692622-20692672	HRE	kidney:	n/a
12	chr14:20711344-20711394	GM12891	blood:	n/a
13	chr14:20692622-20692672	HAEpiC	amniotic membrane:	n/a
14	chr14:20710905-20710955	HL-60	blood:	n/a
15	chr14:20710905-20710955	HRE	kidney:	n/a
16	chr14:20710881-20710931	MCF10A-Er-Src	breast:	n/a
17	chr14:20704361-20704411	NB4	blood:	n/a
18	chr14:20692622-20692672	K562	blood:	n/a
19	chr14:20710881-20710931	Caco-2	colon:	n/a
20	chr14:20710315-20710365	SK-N-SH_RA	brain:	n/a
21	chr14:20710315-20710365	PANC-1	pancreas:	n/a
22	chr14:20691777-20691827	HL-60	blood:	n/a
23	chr14:20710881-20710931	GM12892	blood:	n/a
24	chr14:20691777-20691827	SK-N-MC	brain:	n/a
25	chr14:20704361-20704411	HCF	heart:	n/a
26	chr14:20710905-20710955	SK-N-SH_RA	brain:	n/a
27	chr14:20710881-20710931	HNPCEpiC	eye:	n/a
28	chr14:20711344-20711394	Caco-2	colon:	n/a
29	chr14:20710315-20710365	HCPEpiC	choroid plexus:	n/a
30	chr14:20704361-20704411	HEEpiC	esophagus:	n/a
31	chr14:20691777-20691827	BJ	skin:	n/a
32	chr14:20691777-20691827	NT2-D1	testis:	n/a
33	chr14:20710315-20710365	ovcar-3	ovarian:	n/a
34	chr14:20711344-20711394	K562	blood:	n/a
35	chr14:20691777-20691827	ProgFib	skin:	n/a
36	chr14:20692622-20692672	HIPEpiC	eye:	n/a
37	chr14:20691777-20691827	MCF-7	breast:	n/a
38	chr14:20710315-20710365	IMR90	lung:	fetal
39	chr14:20710881-20710931	PrEC	prostate:	n/a
40	chr14:20692622-20692672	HCT-116	colon:	n/a
41	chr14:20691777-20691827	PrEC	prostate:	n/a
42	chr14:20711344-20711394	HUVEC	blood vessel:	n/a
43	chr14:20710315-20710365	NH-A	brain:	n/a
44	chr14:20710315-20710365	GM19239	blood:	n/a
45	chr14:20691777-20691827	LNCaP	prostate:	n/a
46	chr14:20711344-20711394	AG04450	lung:	fetal
47	chr14:20704361-20704411	MCF-7	breast:	n/a
48	chr14:20692622-20692672	ProgFib	skin:	n/a
49	chr14:20710881-20710931	SK-N-MC	brain:	n/a
50	chr14:20692622-20692672	NHBE	bronchial:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20674085..20677001-chr14:20687478..20690164,2	MCF-7	breast:
2	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:
3	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266336	TF binding region
OR11H6	TF binding region
OR11H4	TF binding region
OR11H7	TF binding region
ENSG00000266336	CpG island
OR11H6	CpG island
OR11H4	CpG island
OR11H7	CpG island
ENSG00000176219	chromatin interactions
ENSG00000258806	chromatin interactions

Extended variants
information (count: 575 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539352306	chr14:20685413-20685414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557502682	chr14:20685415-20685416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61996995	chr14:20685431-20685432	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74033850	chr14:20686070-20686071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555574925	chr14:20686071-20686072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74033851	chr14:20686143-20686144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116008661	chr14:20686195-20686196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111493721	chr14:20686262-20686263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368938139	chr14:20686314-20686315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534494301	chr14:20686342-20686343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201200279	chr14:20686343-20686344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573289578	chr14:20686401-20686402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386775269	chr14:20686460-20686461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57646117	chr14:20686461-20686462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558488461	chr14:20686496-20686497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11849144	chr14:20686519-20686520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377634614	chr14:20686547-20686548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543611177	chr14:20686582-20686583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7141651	chr14:20686583-20686584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539749459	chr14:20686620-20686621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7141667	chr14:20686621-20686622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142652192	chr14:20686625-20686626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151011585	chr14:20686626-20686627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140679981	chr14:20686627-20686628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551407932	chr14:20686694-20686695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569605169	chr14:20686730-20686731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530841391	chr14:20686773-20686774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187364204	chr14:20686881-20686882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567472838	chr14:20686899-20686900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201684347	chr14:20686932-20686933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1959343	chr14:20686938-20686939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116651725	chr14:20686999-20687000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573987450	chr14:20687052-20687053	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571416091	chr14:20687059-20687060	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78068126	chr14:20687107-20687108	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115138842	chr14:20687132-20687133	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115656238	chr14:20687134-20687135	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567040881	chr14:20687176-20687177	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545593556	chr14:20687261-20687262	Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs555648073	chr14:20687262-20687263	Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs563982747	chr14:20687267-20687268	Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs190557726	chr14:20687294-20687295	Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs541255030	chr14:20687350-20687351	Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs538018294	chr14:20687419-20687420	Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs78353735	chr14:20687477-20687478	Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs2318889	chr14:20687506-20687507	Flanking Active TSS Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114760764	chr14:20687517-20687518	Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs544957647	chr14:20687521-20687522	Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs76639655	chr14:20687585-20687586	Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs2873832	chr14:20687586-20687587	Flanking Active TSS Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20686000-20687200	Enhancers	A549	lung
2	chr14:20687000-20687200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:20687000-20687200	Enhancers	K562	blood
4	chr14:20687000-20687400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:20687000-20687600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:20687200-20687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:20687200-20687800	Flanking Active TSS	A549	lung
8	chr14:20687200-20687800	Enhancers	Hela-S3	cervix
9	chr14:20687200-20687800	Flanking Active TSS	K562	blood
10	chr14:20687400-20687600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:20687600-20687800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:20687800-20688200	Enhancers	A549	lung
13	chr14:20687800-20691200	Weak transcription	K562	blood
14	chr14:20691200-20692600	Enhancers	K562	blood
15	chr14:20695400-20695600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:20698000-20698400	Active TSS	Fetal Heart	heart
17	chr14:20704000-20704400	Active TSS	HepG2	liver
18	chr14:20707000-20707200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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