Variant report

Variant	nsv901466
Chromosome Location	chr14:20656645-20707100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:366)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:20687322-20687431	H1-hESC	embryonic stem cell:	n/a	chr14:20687387-20687401
2	BACH1	chr14:20687217-20687569	K562	blood:	n/a	chr14:20687387-20687401
3	CCNT2	chr14:20677752-20678071	K562	blood:	n/a	n/a
4	CEBPB	chr14:20683358-20683686	HepG2	liver:	n/a	chr14:20683523-20683534
5	CEBPB	chr14:20667271-20667577	Hela-S3	cervix:	n/a	chr14:20667443-20667454
6	CEBPB	chr14:20683384-20683692	Hela-S3	cervix:	n/a	chr14:20683523-20683534
7	CEBPB	chr14:20668608-20668745	K562	blood:	n/a	n/a
8	CEBPB	chr14:20667315-20667616	A549	lung:	n/a	chr14:20667443-20667454
9	CEBPB	chr14:20683466-20683657	K562	blood:	n/a	chr14:20683523-20683534
10	CEBPB	chr14:20667315-20667568	K562	blood:	n/a	chr14:20667443-20667454
11	CEBPB	chr14:20659063-20659394	HepG2	liver:	n/a	chr14:20659228-20659241 chr14:20659229-20659240 chr14:20659227-20659244
12	CEBPB	chr14:20667283-20667629	HepG2	liver:	n/a	chr14:20667443-20667454
13	CEBPB	chr14:20683369-20683682	IMR90	lung:	n/a	chr14:20683523-20683534
14	CEBPB	chr14:20683376-20683687	A549	lung:	n/a	chr14:20683523-20683534
15	CEBPB	chr14:20668546-20668738	A549	lung:	n/a	n/a
16	CEBPB	chr14:20659170-20659372	K562	blood:	n/a	chr14:20659228-20659241 chr14:20659229-20659240 chr14:20659227-20659244
17	CEBPB	chr14:20683431-20683747	MCF-7	breast:	n/a	chr14:20683523-20683534
18	CHD2	chr14:20662444-20662449	GM12878	blood:	n/a	n/a
19	CTCF	chr14:20693400-20693550	HepG2	liver:	n/a	n/a
20	CTCF	chr14:20685100-20685250	GM12864	blood:	n/a	n/a
21	CTCF	chr14:20669388-20669474	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:20664213-20664339	HepG2	liver:	n/a	n/a
23	CTCF	chr14:20664078-20664471	K562	blood:	n/a	n/a
24	CTCF	chr14:20664260-20664410	BE2_C	brain:	n/a	n/a
25	CTCF	chr14:20693380-20693530	A549	lung:	n/a	n/a
26	CTCF	chr14:20664169-20664172	LNCaP	prostate:	n/a	n/a
27	CTCF	chr14:20664241-20664344	ProgFib	skin:	n/a	n/a
28	CTCF	chr14:20685140-20685290	GM12864	blood:	n/a	n/a
29	CTCF	chr14:20664220-20664370	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr14:20685180-20685330	AG10803	skin:	n/a	n/a
31	CTCF	chr14:20685200-20685350	SAEC	small airway:	n/a	n/a
32	CTCF	chr14:20663911-20664541	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr14:20685300-20685338	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:20685225-20685399	A549	lung:	n/a	n/a
35	CTCF	chr14:20685218-20685434	A549	lung:	n/a	n/a
36	CTCF	chr14:20685185-20685468	K562	blood:	n/a	n/a
37	CTCF	chr14:20664173-20664381	LNCaP	prostate:	n/a	n/a
38	CTCF	chr14:20685100-20685250	GM12868	blood:	n/a	n/a
39	CTCF	chr14:20685288-20685357	Gliobla	brain:	n/a	n/a
40	CTCF	chr14:20664001-20664467	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:20693420-20693570	A549	lung:	n/a	n/a
42	CTCF	chr14:20664209-20664369	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:20664148-20664387	K562	blood:	n/a	n/a
44	CTCF	chr14:20664182-20664339	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr14:20685238-20685511	K562	blood:	n/a	n/a
46	CTCF	chr14:20664248-20664331	Fibrobl	skin:	n/a	n/a
47	CTCF	chr14:20664180-20664330	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr14:20664184-20664356	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr14:20685338-20685353	GM12891	blood:	n/a	n/a
50	CTCF	chr14:20693369-20693508	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20664021-20664071	ProgFib	skin:	n/a
2	chr14:20691777-20691827	HepG2	liver:	n/a
3	chr14:20704361-20704411	K562	blood:	n/a
4	chr14:20664021-20664071	Jurkat	blood:	n/a
5	chr14:20666088-20666138	IMR90	lung:	fetal
6	chr14:20691777-20691827	SK-N-MC	brain:	n/a
7	chr14:20664021-20664071	HPAEpiC	pulmonary alveolar:	n/a
8	chr14:20704361-20704411	RPTEC	kidney:	n/a
9	chr14:20664021-20664071	IMR90	lung:	fetal
10	chr14:20666088-20666138	NB4	blood:	n/a
11	chr14:20664021-20664071	HAEpiC	amniotic membrane:	n/a
12	chr14:20664580-20664630	PFSK-1	brain:	n/a
13	chr14:20664021-20664071	AG10803	skin:	n/a
14	chr14:20664580-20664630	GM12891	blood:	n/a
15	chr14:20666088-20666138	HIPEpiC	eye:	n/a
16	chr14:20692622-20692672	PANC-1	pancreas:	n/a
17	chr14:20666088-20666138	GM12891	blood:	n/a
18	chr14:20692622-20692672	SAEC	small airway:	n/a
19	chr14:20691777-20691827	NH-A	brain:	n/a
20	chr14:20666088-20666138	BE2_C	brain:	n/a
21	chr14:20704361-20704411	NHDF-neo	bronchial:	n/a
22	chr14:20691777-20691827	U87	brain:	n/a
23	chr14:20691777-20691827	HCM	heart:	n/a
24	chr14:20692622-20692672	Jurkat	blood:	n/a
25	chr14:20666088-20666138	AG04450	lung:	fetal
26	chr14:20704361-20704411	HCM	heart:	n/a
27	chr14:20664580-20664630	NHBE	bronchial:	n/a
28	chr14:20664021-20664071	NB4	blood:	n/a
29	chr14:20704361-20704411	ovcar-3	ovarian:	n/a
30	chr14:20704361-20704411	PANC-1	pancreas:	n/a
31	chr14:20691777-20691827	Caco-2	colon:	n/a
32	chr14:20692622-20692672	AG09319	gingival:	n/a
33	chr14:20664021-20664071	SK-N-SH	brain:	n/a
34	chr14:20664580-20664630	SK-N-SH	brain:	n/a
35	chr14:20664580-20664630	NT2-D1	testis:	n/a
36	chr14:20666088-20666138	GM12892	blood:	n/a
37	chr14:20691777-20691827	HIPEpiC	eye:	n/a
38	chr14:20704361-20704411	HL-60	blood:	n/a
39	chr14:20666088-20666138	GM19239	blood:	n/a
40	chr14:20691777-20691827	Hepatocyte	liver:	n/a
41	chr14:20664021-20664071	MCF10A-Er-Src	breast:	n/a
42	chr14:20664021-20664071	U87	brain:	n/a
43	chr14:20691777-20691827	HAEpiC	amniotic membrane:	n/a
44	chr14:20666088-20666138	Jurkat	blood:	n/a
45	chr14:20664580-20664630	AG09309	skin:	n/a
46	chr14:20704361-20704411	HIPEpiC	eye:	n/a
47	chr14:20666088-20666138	HepG2	liver:	n/a
48	chr14:20704361-20704411	HMEC	breast:	n/a
49	chr14:20692622-20692672	ProgFib	skin:	n/a
50	chr14:20666088-20666138	U87	brain:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20657790..20659854-chr14:20660139..20662743,2	K562	blood:
2	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:
3	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:
4	chr14:20653650..20655621-chr14:20656798..20658985,2	K562	blood:
5	chr14:20657790..20659854-chr14:20660139..20662743,2	K562	blood:
6	chr14:20674085..20677001-chr14:20687478..20690164,2	MCF-7	breast:
7	chr14:20674085..20677001-chr14:20687478..20690164,2	MCF-7	breast:
8	chr14:20653449..20656373-chr14:20661305..20663533,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR11H5P	TF binding region
ENSG00000266336	TF binding region
OR11G2	TF binding region
OR11H6	TF binding region
OR11H4	TF binding region
OR11H7	TF binding region
OR11H5P	CpG island
ENSG00000266336	CpG island
OR11G2	CpG island
OR11H6	CpG island
OR11H4	CpG island
OR11H7	CpG island
ENSG00000176219	chromatin interactions
ENSG00000258806	chromatin interactions

Extended variants
information (count: 742 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376457551	chr14:20661259-20661260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2318884	chr14:20661292-20661293	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565895514	chr14:20662325-20662326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs183363700	chr14:20662333-20662334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs8016235	chr14:20662371-20662372	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569262113	chr14:20662471-20662472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74033842	chr14:20662534-20662535	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555381396	chr14:20662535-20662536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568656261	chr14:20662538-20662539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs558432898	chr14:20663224-20663225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550929292	chr14:20663227-20663228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543926769	chr14:20663237-20663238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151170450	chr14:20663245-20663246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141030057	chr14:20663267-20663268	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs542748416	chr14:20663304-20663305	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs374455966	chr14:20663402-20663403	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189534616	chr14:20663404-20663405	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111303488	chr14:20663420-20663421	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs150249769	chr14:20663465-20663466	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138911393	chr14:20663474-20663475	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575965227	chr14:20663515-20663516	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563170626	chr14:20663530-20663531	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs530503375	chr14:20663538-20663539	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549075915	chr14:20663551-20663552	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142226283	chr14:20663585-20663586	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145915794	chr14:20663606-20663607	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs547735236	chr14:20663607-20663608	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566369009	chr14:20663628-20663629	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540184737	chr14:20663631-20663632	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs551984859	chr14:20663642-20663643	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570296102	chr14:20663733-20663734	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543028043	chr14:20663756-20663757	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs550497979	chr14:20663901-20663902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537115758	chr14:20663905-20663906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555852185	chr14:20663921-20663922	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573906074	chr14:20663947-20663948	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs535007609	chr14:20664021-20664022	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs377690801	chr14:20664025-20664026	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs180676459	chr14:20664098-20664099	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs544936867	chr14:20664130-20664131	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs116756762	chr14:20664163-20664164	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116866510	chr14:20664165-20664166	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs184018430	chr14:20664167-20664168	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs138175391	chr14:20664176-20664177	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs561045954	chr14:20664200-20664201	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs528216614	chr14:20664214-20664215	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs546573950	chr14:20664215-20664216	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564904000	chr14:20664225-20664226	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567545508	chr14:20664241-20664242	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs1953554	chr14:20664258-20664259	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20663200-20664600	Enhancers	K562	blood
2	chr14:20664200-20666400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr14:20665600-20666400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:20665800-20666400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr14:20677600-20678400	Enhancers	K562	blood
6	chr14:20686000-20687200	Enhancers	A549	lung
7	chr14:20687000-20687200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:20687000-20687200	Enhancers	K562	blood
9	chr14:20687000-20687400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:20687000-20687600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:20687200-20687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:20687200-20687800	Flanking Active TSS	A549	lung
13	chr14:20687200-20687800	Enhancers	Hela-S3	cervix
14	chr14:20687200-20687800	Flanking Active TSS	K562	blood
15	chr14:20687400-20687600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:20687600-20687800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:20687800-20688200	Enhancers	A549	lung
18	chr14:20687800-20691200	Weak transcription	K562	blood
19	chr14:20691200-20692600	Enhancers	K562	blood
20	chr14:20695400-20695600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:20698000-20698400	Active TSS	Fetal Heart	heart
22	chr14:20704000-20704400	Active TSS	HepG2	liver
23	chr14:20707000-20707200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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