Variant report

Variant	nsv962499
Chromosome Location	chr18:14822501-14830614
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	CTCF	chr18:14828865-14828959	Pancreas_OC	pancreas:	n/a	n/a
2	FOS	chr18:14826963-14827427	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr18:14827066-14827423	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr18:14827083-14827425	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr18:14826950-14827427	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA2	chr18:14822857-14823231	A549	lung:	n/a	n/a
7	FOXA2	chr18:14822873-14823017	A549	lung:	n/a	n/a
8	JUND	chr18:14827075-14827260	HepG2	liver:	n/a	chr18:14827198-14827209
9	MYC	chr18:14827078-14827380	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr18:14826900-14827420	U87	brain:	n/a	n/a
11	POLR2A	chr18:14823724-14823748	GM12878	blood:	n/a	n/a
12	POLR2A	chr18:14823834-14823907	GM12878	blood:	n/a	n/a
13	POLR2A	chr18:14823786-14823825	GM12878	blood:	n/a	n/a
14	POLR2A	chr18:14826907-14827375	U87	brain:	n/a	n/a
15	POLR2A	chr18:14826102-14826264	ProgFib	skin:	n/a	n/a
16	POLR2A	chr18:14827556-14827710	ProgFib	skin:	n/a	n/a
17	STAT3	chr18:14827128-14827427	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr18:14825086-14825275	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr18:14827076-14827427	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr18:14827176-14827522	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-2	chr18:14825150-14825248	ENSG00000265737.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3156-5p	chr18:14830173-14830194	MIMAT0015030_1
hsa-miR-3156-3p	chr18:14830214-14830234	MIMAT0019209_1

Variant related genes	Relation type
MIR3156-2	TF binding region
ENSG00000265737	TF binding region

Extended variants
information (count: 219 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs541561556	chr18:14825151-14825152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs190496927	chr18:14825152-14825153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs530268626	chr18:14825187-14825188	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs550343504	chr18:14825212-14825213	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs563865047	chr18:14825231-14825232	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs183400336	chr18:14825253-14825254	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs529297844	chr18:14825254-14825255	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs570931155	chr18:14825265-14825266	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs368901216	chr18:14825296-14825297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187700557	chr18:14825341-14825342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527323698	chr18:14826143-14826144	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs546980264	chr18:14826234-14826235	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs567295378	chr18:14826249-14826250	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs199623920	chr18:14826425-14826426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35681070	chr18:14826439-14826440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72478160	chr18:14826454-14826455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146216392	chr18:14826476-14826477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538806918	chr18:14826488-14826489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558916502	chr18:14826540-14826541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565961945	chr18:14826543-14826544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535068644	chr18:14826593-14826594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554954162	chr18:14826621-14826622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574704270	chr18:14826627-14826628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376160221	chr18:14826655-14826656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11662079	chr18:14826664-14826665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62086444	chr18:14826670-14826671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71367972	chr18:14826678-14826679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62086445	chr18:14826686-14826687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62086446	chr18:14826688-14826689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62086447	chr18:14826690-14826691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62086448	chr18:14826692-14826693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61497414	chr18:14826693-14826694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200839084	chr18:14826694-14826695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201982823	chr18:14826696-14826697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200146881	chr18:14826698-14826699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71176079	chr18:14826725-14826726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543913574	chr18:14826755-14826756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34274536	chr18:14826756-14826757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184643144	chr18:14826820-14826821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375847270	chr18:14826822-14826823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200123018	chr18:14826823-14826824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577052260	chr18:14826827-14826828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57980950	chr18:14826829-14826830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190308904	chr18:14826841-14826842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35923941	chr18:14826849-14826850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34315201	chr18:14826878-14826879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34275568	chr18:14826894-14826895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528756336	chr18:14826904-14826905	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs181404369	chr18:14826915-14826916	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs184730866	chr18:14826921-14826922	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14825200-14825400	Enhancers	Spleen	Spleen
2	chr18:14826400-14828600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr18:14827000-14827800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14827000-14828200	Enhancers	Osteobl	bone
5	chr18:14828200-14838800	Weak transcription	Osteobl	bone

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