Variant report

Variant	nsv976842
Chromosome Location	chr14:22050384-22055706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:22054906-22055075	HepG2	liver:	n/a	chr14:22054927-22054942
2	MAFK	chr14:22054917-22055048	HepG2	liver:	n/a	chr14:22054927-22054942
3	MXI1	chr14:22053131-22053149	GM12878	blood:	n/a	n/a
4	MYC	chr14:22054999-22055033	MCF-7	breast:	n/a	n/a
5	MYC	chr14:22054981-22054996	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:22054919-22055057	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:22051267-22051416	ProgFib	skin:	n/a	n/a
8	ZNF143	chr14:22053542-22053628	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21904137..21906768-chr14:22051037..22052633,2	K562	blood:
2	chr14:22044036..22045572-chr14:22048547..22050581,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10G3-1	chr14:22053414-22054404	NONHSAT035698

Variant related genes	Relation type
ENSG00000256081	TF binding region
ENSG00000100888	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34001833	chr14:22050390-22050391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547271869	chr14:22050411-22050412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184144834	chr14:22050417-22050418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8018556	chr14:22050513-22050514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199998588	chr14:22050528-22050529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374649669	chr14:22050549-22050550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550945229	chr14:22050569-22050570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76431331	chr14:22050583-22050584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149573071	chr14:22050593-22050594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115697897	chr14:22050619-22050620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369873754	chr14:22050642-22050643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116202326	chr14:22050666-22050667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144224402	chr14:22050675-22050676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148750931	chr14:22050684-22050685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111268003	chr14:22050734-22050735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74844994	chr14:22050735-22050736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200969736	chr14:22050746-22050747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202022118	chr14:22050747-22050748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34767550	chr14:22050768-22050769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558974196	chr14:22050782-22050783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373343509	chr14:22050810-22050811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79547939	chr14:22050811-22050812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114729799	chr14:22050865-22050866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574995074	chr14:22050869-22050870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115361713	chr14:22050872-22050873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560869683	chr14:22050891-22050892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186615412	chr14:22050900-22050901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551004383	chr14:22050906-22050907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564536840	chr14:22051007-22051008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79975600	chr14:22051092-22051093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147408561	chr14:22051112-22051113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373204799	chr14:22051169-22051170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs397949262	chr14:22051187-22051188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140118296	chr14:22051190-22051191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567215457	chr14:22051214-22051215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192348579	chr14:22051234-22051235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185500338	chr14:22051253-22051254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566805596	chr14:22051257-22051258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10130164	chr14:22051273-22051274	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs55730332	chr14:22051305-22051306	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569286659	chr14:22051328-22051329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537820087	chr14:22051346-22051347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190471807	chr14:22051374-22051375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs55693738	chr14:22051394-22051395	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540857710	chr14:22051397-22051398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554064859	chr14:22051454-22051455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562988123	chr14:22051514-22051515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs17182599	chr14:22051519-22051520	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs55783051	chr14:22051544-22051545	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562800764	chr14:22051548-22051549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Breast cancer	21858162	CNVD
Autism	22102821	CNVD
Ewing''s sarcoma	18628472	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22049600-22054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22053800-22054200	Enhancers	NHEK	skin
3	chr14:22054800-22055200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:22055200-22055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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