Variant report

Variant	nsv521393
Chromosome Location	chr14:20603899-20622987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:20608626-20608778	K562	blood:	n/a	n/a
2	CEBPB	chr14:20618584-20618626	A549	lung:	n/a	n/a
3	CEBPB	chr14:20622449-20622660	HepG2	liver:	n/a	chr14:20622561-20622572
4	CTCF	chr14:20612186-20612358	GM19239	blood:	n/a	n/a
5	CTCF	chr14:20612233-20612323	ProgFib	skin:	n/a	n/a
6	CTCF	chr14:20612180-20612330	HepG2	liver:	n/a	n/a
7	CTCF	chr14:20612220-20612370	BE2_C	brain:	n/a	n/a
8	CTCF	chr14:20612080-20612230	GM12868	blood:	n/a	n/a
9	CTCF	chr14:20612120-20612270	NB4	blood:	n/a	n/a
10	CTCF	chr14:20612240-20612390	GM12873	blood:	n/a	n/a
11	CTCF	chr14:20612177-20612379	HepG2	liver:	n/a	n/a
12	CTCF	chr14:20612034-20612452	HepG2	liver:	n/a	n/a
13	CTCF	chr14:20612180-20612330	GM12871	blood:	n/a	n/a
14	CTCF	chr14:20612220-20612370	Caco-2	colon:	n/a	n/a
15	CTCF	chr14:20612280-20612430	HCT-116	colon:	n/a	n/a
16	CTCF	chr14:20612129-20612368	K562	blood:	n/a	n/a
17	CTCF	chr14:20612180-20612330	RPTEC	kidney:	n/a	n/a
18	CTCF	chr14:20612220-20612370	GM12869	blood:	n/a	n/a
19	CTCF	chr14:20612240-20612390	GM12868	blood:	n/a	n/a
20	CTCF	chr14:20612160-20612310	GM12874	blood:	n/a	n/a
21	CTCF	chr14:20612180-20612330	GM12875	blood:	n/a	n/a
22	CTCF	chr14:20612280-20612430	Caco-2	colon:	n/a	n/a
23	CTCF	chr14:20612111-20612348	K562	blood:	n/a	n/a
24	CTCF	chr14:20612220-20612370	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr14:20612173-20612366	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:20612160-20612310	GM12873	blood:	n/a	n/a
27	CTCF	chr14:20612120-20612270	K562	blood:	n/a	n/a
28	CTCF	chr14:20612200-20612350	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr14:20612165-20612498	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:20612138-20612474	K562	blood:	n/a	n/a
31	CTCF	chr14:20612160-20612310	GM06990	blood:	n/a	n/a
32	CTCF	chr14:20612217-20612315	Fibrobl	skin:	n/a	n/a
33	CTCF	chr14:20612120-20612270	GM12872	blood:	n/a	n/a
34	CTCF	chr14:20612240-20612390	GM12864	blood:	n/a	n/a
35	CTCF	chr14:20612149-20612392	MCF-7	breast:	n/a	n/a
36	CTCF	chr14:20612200-20612350	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:20612120-20612270	GM12875	blood:	n/a	n/a
38	CTCF	chr14:20612116-20612391	A549	lung:	n/a	n/a
39	CTCF	chr14:20612110-20612115	A549	lung:	n/a	n/a
40	CTCF	chr14:20612200-20612350	GM12878	blood:	n/a	n/a
41	CTCF	chr14:20612240-20612390	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr14:20612180-20612330	A549	lung:	n/a	n/a
43	CTCF	chr14:20612160-20612310	HL-60	blood:	n/a	n/a
44	CTCF	chr14:20612192-20612361	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr14:20611720-20611870	GM06990	blood:	n/a	n/a
46	CTCF	chr14:20612160-20612310	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:20612155-20612387	HepG2	liver:	n/a	n/a
48	CTCF	chr14:20612260-20612410	A549	lung:	n/a	n/a
49	CTCF	chr14:20612222-20612313	GM19238	blood:	n/a	n/a
50	CTCF	chr14:20612149-20612389	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20611696-20611746	HCPEpiC	choroid plexus:	n/a
2	chr14:20611696-20611746	HepG2	liver:	n/a
3	chr14:20612220-20612270	RPTEC	kidney:	n/a
4	chr14:20611696-20611746	NHBE	bronchial:	n/a
5	chr14:20611696-20611746	AoSMC	blood vessel:	n/a
6	chr14:20611779-20611829	IMR90	lung:	fetal
7	chr14:20611696-20611746	Caco-2	colon:	n/a
8	chr14:20611696-20611746	A549	lung:	n/a
9	chr14:20612220-20612270	MCF10A-Er-Src	breast:	n/a
10	chr14:20611696-20611746	HRCEpiC	kidney:	n/a
11	chr14:20611779-20611829	AoSMC	blood vessel:	n/a
12	chr14:20611779-20611829	K562	blood:	n/a
13	chr14:20612220-20612270	CMK	blood:	n/a
14	chr14:20612220-20612270	HCF	heart:	n/a
15	chr14:20611696-20611746	MCF-7	breast:	n/a
16	chr14:20611779-20611829	MCF10A-Er-Src	breast:	n/a
17	chr14:20611779-20611829	NT2-D1	testis:	n/a
18	chr14:20612220-20612270	HCPEpiC	choroid plexus:	n/a
19	chr14:20611779-20611829	NHBE	bronchial:	n/a
20	chr14:20612220-20612270	AG09309	skin:	n/a
21	chr14:20611779-20611829	SK-N-MC	brain:	n/a
22	chr14:20611779-20611829	H1-hESC	embryonic stem cell:	embryo
23	chr14:20612220-20612270	Hela-S3	cervix:	n/a
24	chr14:20612220-20612270	BE2_C	brain:	n/a
25	chr14:20611779-20611829	HCM	heart:	n/a
26	chr14:20612220-20612270	AG04449	skin:	fetal
27	chr14:20611696-20611746	NT2-D1	testis:	n/a
28	chr14:20611779-20611829	NB4	blood:	n/a
29	chr14:20611696-20611746	SK-N-SH	brain:	n/a
30	chr14:20611779-20611829	SKMC	muscle:	n/a
31	chr14:20611779-20611829	SAEC	small airway:	n/a
32	chr14:20611696-20611746	GM12891	blood:	n/a
33	chr14:20611696-20611746	GM12892	blood:	n/a
34	chr14:20611696-20611746	PrEC	prostate:	n/a
35	chr14:20611696-20611746	AG09309	skin:	n/a
36	chr14:20611696-20611746	PANC-1	pancreas:	n/a
37	chr14:20611696-20611746	SK-N-MC	brain:	n/a
38	chr14:20611696-20611746	AG04449	skin:	fetal
39	chr14:20612220-20612270	SKMC	muscle:	n/a
40	chr14:20612220-20612270	LNCaP	prostate:	n/a
41	chr14:20611696-20611746	HCM	heart:	n/a
42	chr14:20612220-20612270	GM12878	blood:	n/a
43	chr14:20612220-20612270	NHDF-neo	bronchial:	n/a
44	chr14:20611696-20611746	HNPCEpiC	eye:	n/a
45	chr14:20612220-20612270	HPAEpiC	pulmonary alveolar:	n/a
46	chr14:20612220-20612270	GM12891	blood:	n/a
47	chr14:20611779-20611829	Hepatocyte	liver:	n/a
48	chr14:20611779-20611829	ECC-1	luminal epithelium:	n/a
49	chr14:20612220-20612270	K562	blood:	n/a
50	chr14:20612220-20612270	HAEpiC	amniotic membrane:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20615947..20618319-chr14:20622650..20625017,2	K562	blood:
2	chr14:20611730..20613442-chr14:20616450..20619196,2	K562	blood:
3	chr14:20611730..20613442-chr14:20616450..20619196,2	K562	blood:
4	chr14:20615947..20618319-chr14:20622650..20625486,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4N5-1	chr14:20617391-20617904	NONHSAT035552

No data

Variant related genes	Relation type
OR4N5	TF binding region
RNA5SP381	TF binding region
PSMB7P1	TF binding region
OR4N5	CpG island
RNA5SP381	CpG island
PSMB7P1	CpG island
ENSG00000184394	chromatin interactions
ENSG00000259074	chromatin interactions

Extended variants
information (count: 540 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560140297	chr14:20608107-20608108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs532205950	chr14:20608594-20608595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116145770	chr14:20608663-20608664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs151020598	chr14:20608684-20608685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139440291	chr14:20608694-20608695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547752768	chr14:20608706-20608707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182732715	chr14:20608708-20608709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187064288	chr14:20608730-20608731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553253949	chr14:20608747-20608748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs578228791	chr14:20608754-20608755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs538848730	chr14:20608765-20608766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs149666743	chr14:20608777-20608778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs192179031	chr14:20608778-20608779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs145497076	chr14:20608788-20608789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs185020945	chr14:20608793-20608794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540679841	chr14:20608839-20608840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs190807406	chr14:20608854-20608855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs193095617	chr14:20608875-20608876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544052755	chr14:20608877-20608878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370409172	chr14:20608883-20608884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562679334	chr14:20608895-20608896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562722851	chr14:20608914-20608915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201244848	chr14:20608918-20608919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529719680	chr14:20608937-20608938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs145385318	chr14:20608942-20608943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527717041	chr14:20609403-20609404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs60332994	chr14:20609405-20609406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs74462357	chr14:20609436-20609437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs529840545	chr14:20609451-20609452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115313364	chr14:20609457-20609458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559804784	chr14:20609506-20609507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs577808095	chr14:20611209-20611210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568122832	chr14:20611227-20611228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140642790	chr14:20611285-20611286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150456909	chr14:20611302-20611303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145393232	chr14:20611360-20611361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539602672	chr14:20611377-20611378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187247411	chr14:20611378-20611379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74322083	chr14:20611385-20611386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543165831	chr14:20611465-20611466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149222852	chr14:20611618-20611619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573684773	chr14:20611626-20611627	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs376160792	chr14:20611673-20611674	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs10137715	chr14:20611676-20611677	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs386775263	chr14:20611689-20611690	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375782256	chr14:20611690-20611691	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs189935711	chr14:20611692-20611693	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564546677	chr14:20611711-20611712	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs531790031	chr14:20611736-20611737	Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182104496	chr14:20611776-20611777	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20611200-20612600	Enhancers	K562	blood
2	chr14:20612400-20612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:20613200-20613400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr14:20613600-20621000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:20622200-20622400	Enhancers	Pancreatic Islets	Pancreatic Islet

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