Variant report

Variant	nsv516092
Chromosome Location	chr14:22051519-22055032
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	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:

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: 153 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17182599	chr14:22051519-22051520	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs55783051	chr14:22051544-22051545	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562800764	chr14:22051548-22051549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530439914	chr14:22051588-22051589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17792790	chr14:22051597-22051598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78772976	chr14:22051669-22051670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs17182606	chr14:22051691-22051692	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546811863	chr14:22051720-22051721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557078069	chr14:22051749-22051750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116276503	chr14:22051761-22051762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113483307	chr14:22051776-22051777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552518590	chr14:22051824-22051825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115567327	chr14:22051825-22051826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538268385	chr14:22051851-22051852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs28579114	chr14:22051864-22051865	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140876262	chr14:22051886-22051887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370091795	chr14:22051901-22051902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181650088	chr14:22051922-22051923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs4982466	chr14:22051991-22051992	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12436177	chr14:22052015-22052016	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545953319	chr14:22052040-22052041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184454520	chr14:22052066-22052067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs202197606	chr14:22052082-22052083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116091339	chr14:22052105-22052106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368610446	chr14:22052174-22052175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189260356	chr14:22052176-22052177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12885203	chr14:22052185-22052186	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145446815	chr14:22052199-22052200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532371951	chr14:22052202-22052203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4982467	chr14:22052209-22052210	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534359679	chr14:22052259-22052260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4982468	chr14:22052261-22052262	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138965565	chr14:22052297-22052298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181243358	chr14:22052301-22052302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185739399	chr14:22052305-22052306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140689576	chr14:22052314-22052315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534156022	chr14:22052327-22052328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547501130	chr14:22052333-22052334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143758615	chr14:22052343-22052344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539671360	chr14:22052344-22052345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190859145	chr14:22052352-22052353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148176151	chr14:22052359-22052360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576711619	chr14:22052360-22052361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374102368	chr14:22052364-22052365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535768231	chr14:22052400-22052401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555976761	chr14:22052401-22052402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs17107906	chr14:22052406-22052407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10145384	chr14:22052430-22052431	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs180962710	chr14:22052498-22052499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576999243	chr14:22052518-22052519	Weak transcription	Chromatin interactive 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
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

Chromatin state (count:3 , 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

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