Variant report

Variant	esv14908
Chromosome Location	chr3:195197889-195211591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-1	chr3:195204068-195204142	refGeneNc_4303_NR_033944

Extended variants
information (count: 35 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181419808	chr3:195197911-195197912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538955515	chr3:195197917-195197918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552669236	chr3:195197949-195197950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1873968	chr3:195197958-195197959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184284896	chr3:195198084-195198085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556681742	chr3:195198086-195198087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189437671	chr3:195198092-195198093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577940093	chr3:195198096-195198097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542943762	chr3:195198106-195198107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369005103	chr3:195198108-195198109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573086649	chr3:195198118-195198119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142963131	chr3:195198136-195198137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565405224	chr3:195198139-195198140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532495244	chr3:195198141-195198142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114410421	chr3:195198165-195198166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562749875	chr3:195198207-195198208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182394408	chr3:195198209-195198210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548493548	chr3:195198212-195198213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560561544	chr3:195198251-195198252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566792810	chr3:195198256-195198257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115613139	chr3:195198285-195198286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552333165	chr3:195198291-195198292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147489571	chr3:195198323-195198324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186123004	chr3:195198347-195198348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139322072	chr3:195198354-195198355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568779673	chr3:195198359-195198360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190884899	chr3:195198365-195198366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565080971	chr3:195198366-195198367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2686443	chr3:195198382-195198383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540478654	chr3:195198392-195198393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4282095	chr3:195198396-195198397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71291758	chr3:195204076-195204077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs367943417	chr3:195204100-195204101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs4081059	chr3:195204118-195204119	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs71626357	chr3:195204137-195204138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195195400-195198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:195198200-195198400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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