Variant report

Variant	nsv974432
Chromosome Location	chr14:20500910-20511328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:20510108-20510148	Medullo	brain:	n/a	n/a
2	CTCF	chr14:20508887-20508950	GM10266	blood:	n/a	n/a
3	CTCF	chr14:20501199-20501221	ProgFib	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20502658-20502708	SK-N-SH	brain:	n/a
2	chr14:20502658-20502708	AG04449	skin:	fetal
3	chr14:20502658-20502708	U87	brain:	n/a
4	chr14:20502658-20502708	HNPCEpiC	eye:	n/a
5	chr14:20502658-20502708	LNCaP	prostate:	n/a
6	chr14:20502658-20502708	SK-N-SH_RA	brain:	n/a
7	chr14:20502658-20502708	ProgFib	skin:	n/a
8	chr14:20502658-20502708	ovcar-3	ovarian:	n/a
9	chr14:20502658-20502708	PrEC	prostate:	n/a
10	chr14:20502658-20502708	HEEpiC	esophagus:	n/a
11	chr14:20502658-20502708	PANC-1	pancreas:	n/a
12	chr14:20502658-20502708	IMR90	lung:	fetal
13	chr14:20502658-20502708	NB4	blood:	n/a
14	chr14:20502658-20502708	BJ	skin:	n/a
15	chr14:20502658-20502708	GM12878	blood:	n/a
16	chr14:20502658-20502708	SKMC	muscle:	n/a
17	chr14:20502658-20502708	H1-hESC	embryonic stem cell:	embryo
18	chr14:20502658-20502708	RPTEC	kidney:	n/a
19	chr14:20502658-20502708	AG09309	skin:	n/a
20	chr14:20502658-20502708	ECC-1	luminal epithelium:	n/a
21	chr14:20502658-20502708	CMK	blood:	n/a
22	chr14:20502658-20502708	SK-N-MC	brain:	n/a
23	chr14:20502658-20502708	BE2_C	brain:	n/a
24	chr14:20502658-20502708	HepG2	liver:	n/a
25	chr14:20502658-20502708	A549	lung:	n/a
26	chr14:20502658-20502708	HCT-116	colon:	n/a
27	chr14:20502658-20502708	HIPEpiC	eye:	n/a
28	chr14:20502658-20502708	HEK293	kidney:	embryo
29	chr14:20502658-20502708	HRCEpiC	kidney:	n/a
30	chr14:20502658-20502708	HCF	heart:	n/a
31	chr14:20502658-20502708	HL-60	blood:	n/a
32	chr14:20502658-20502708	HRE	kidney:	n/a
33	chr14:20502658-20502708	NHDF-neo	bronchial:	n/a
34	chr14:20502658-20502708	NH-A	brain:	n/a
35	chr14:20502658-20502708	AG10803	skin:	n/a
36	chr14:20502658-20502708	AoSMC	blood vessel:	n/a
37	chr14:20502658-20502708	NHBE	bronchial:	n/a
38	chr14:20502658-20502708	MCF10A-Er-Src	breast:	n/a
39	chr14:20502658-20502708	T-47D	breast:	n/a
40	chr14:20502658-20502708	SAEC	small airway:	n/a
41	chr14:20502658-20502708	Caco-2	colon:	n/a
42	chr14:20502658-20502708	NT2-D1	testis:	n/a
43	chr14:20502658-20502708	GM06990	blood:	n/a
44	chr14:20502658-20502708	HPAEpiC	pulmonary alveolar:	n/a
45	chr14:20502658-20502708	MCF-7	breast:	n/a
46	chr14:20502658-20502708	GM12892	blood:	n/a
47	chr14:20502658-20502708	AG04450	lung:	fetal
48	chr14:20502658-20502708	Hela-S3	cervix:	n/a
49	chr14:20502658-20502708	GM19239	blood:	n/a
50	chr14:20502658-20502708	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
OR4K13	TF binding region
ENSG00000265199	TF binding region
OR4U1P	TF binding region
OR4K13	CpG island
ENSG00000265199	CpG island
OR4U1P	CpG island

Extended variants
information (count: 134 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540794720	chr14:20501209-20501210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139827649	chr14:20502235-20502236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146225521	chr14:20502242-20502243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139197151	chr14:20502267-20502268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368969142	chr14:20502270-20502271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149892824	chr14:20502285-20502286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199844086	chr14:20502289-20502290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373091422	chr14:20502292-20502293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145005726	chr14:20502331-20502332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567573202	chr14:20502332-20502333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534566618	chr14:20502339-20502340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201972592	chr14:20502341-20502342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528478794	chr14:20502344-20502345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148655599	chr14:20502354-20502355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552941006	chr14:20502368-20502369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142233028	chr14:20502389-20502390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202096230	chr14:20502409-20502410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376852073	chr14:20502414-20502415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147844931	chr14:20502442-20502443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141584254	chr14:20502466-20502467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370148123	chr14:20502468-20502469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192679665	chr14:20502472-20502473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576745694	chr14:20502477-20502478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113651738	chr14:20502481-20502482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373021760	chr14:20502502-20502503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140037435	chr14:20502506-20502507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199940502	chr14:20502512-20502513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370881689	chr14:20502517-20502518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562116163	chr14:20502531-20502532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147654583	chr14:20502538-20502539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574282025	chr14:20502553-20502554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541325547	chr14:20502556-20502557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149347818	chr14:20502567-20502568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76336343	chr14:20502602-20502603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377194294	chr14:20502603-20502604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200877569	chr14:20502608-20502609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563455180	chr14:20502610-20502611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116485278	chr14:20502614-20502615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549162154	chr14:20502629-20502630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184617178	chr14:20502633-20502634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138902767	chr14:20502652-20502653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149397731	chr14:20502653-20502654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202200696	chr14:20502659-20502660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374416343	chr14:20502670-20502671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78395085	chr14:20502681-20502682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200605568	chr14:20502694-20502695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368560253	chr14:20502714-20502715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372694547	chr14:20502723-20502724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376242424	chr14:20502743-20502744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113736645	chr14:20502757-20502758	Weak transcription	n/a	n/a	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20502200-20502400	Enhancers	Pancreas	Pancrea
2	chr14:20502400-20504200	Weak transcription	Pancreas	Pancrea

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