Variant report

Variant	nsv433423
Chromosome Location	chr14:22049298-22055136
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	chr14:22054917-22055048	HepG2	liver:	n/a	chr14:22054927-22054942
2	MAFK	chr14:22054906-22055075	HepG2	liver:	n/a	chr14:22054927-22054942
3	MXI1	chr14:22053131-22053149	GM12878	blood:	n/a	n/a
4	MYC	chr14:22054981-22054996	MCF-7	breast:	n/a	n/a
5	MYC	chr14:22054999-22055033	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:22051267-22051416	ProgFib	skin:	n/a	n/a
7	POLR2A	chr14:22054919-22055057	MCF-7	breast:	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: 243 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:243 , 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	rs200213195	chr14:22049412-22049413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556851841	chr14:22049417-22049418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71412044	chr14:22049466-22049467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548091455	chr14:22049476-22049477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370301988	chr14:22049483-22049484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563198981	chr14:22049487-22049488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573862741	chr14:22049519-22049520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542683443	chr14:22049529-22049530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61971807	chr14:22049585-22049586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528619565	chr14:22049587-22049588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545527877	chr14:22049594-22049595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565332600	chr14:22049612-22049613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148229720	chr14:22049696-22049697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140278088	chr14:22049770-22049771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7142118	chr14:22049773-22049774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530400643	chr14:22049816-22049817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145121151	chr14:22049826-22049827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182946168	chr14:22049877-22049878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10149582	chr14:22049903-22049904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551080483	chr14:22049911-22049912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187492523	chr14:22049925-22049926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35357567	chr14:22049938-22049939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113670037	chr14:22049943-22049944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77620281	chr14:22049957-22049958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397853430	chr14:22049958-22049959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568474096	chr14:22049982-22049983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138934240	chr14:22049993-22049994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112324825	chr14:22050027-22050028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7140691	chr14:22050032-22050033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536538554	chr14:22050038-22050039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552952014	chr14:22050057-22050058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373914818	chr14:22050108-22050109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76565518	chr14:22050117-22050118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573193462	chr14:22050240-22050241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142255719	chr14:22050257-22050258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533162522	chr14:22050273-22050274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543616886	chr14:22050275-22050276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544850508	chr14:22050317-22050318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150892333	chr14:22050370-22050371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34001833	chr14:22050390-22050391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547271869	chr14:22050411-22050412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184144834	chr14:22050417-22050418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8018556	chr14:22050513-22050514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs199998588	chr14:22050528-22050529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374649669	chr14:22050549-22050550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550945229	chr14:22050569-22050570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76431331	chr14:22050583-22050584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149573071	chr14:22050593-22050594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115697897	chr14:22050619-22050620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369873754	chr14:22050642-22050643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	19587683	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	chr14:22049400-22049600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22049600-22054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:22053800-22054200	Enhancers	NHEK	skin
4	chr14:22054800-22055200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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