Variant report

Variant	esv992691
Chromosome Location	chr3:103252744-103259782
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	chr3:103254300-103254450	BE2_C	brain:	n/a	n/a
2	MAFF	chr3:103252867-103253087	HepG2	liver:	n/a	n/a
3	MAFK	chr3:103252855-103253035	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:103255300-103255516	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:103258572-103258631	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr3:103256179-103256386	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL24-6	chr3:103257479-103259331	NONHSAT090942

Variant related genes	Relation type
ENSG00000240107	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528360248	chr3:103257528-103257529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs79313235	chr3:103257534-103257535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs536554927	chr3:103257557-103257558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs148561826	chr3:103257563-103257564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs567696597	chr3:103257580-103257581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs11924723	chr3:103257604-103257605	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546925606	chr3:103257625-103257626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs578129409	chr3:103257643-103257644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs566031908	chr3:103257645-103257646	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs62274371	chr3:103257687-103257688	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs545493071	chr3:103257723-103257724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs186766491	chr3:103257735-103257736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs572507476	chr3:103257767-103257768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs114438178	chr3:103257796-103257797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs372398419	chr3:103257828-103257829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs561421825	chr3:103257833-103257834	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs531378618	chr3:103257863-103257864	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs201238980	chr3:103257888-103257889	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs573771101	chr3:103257924-103257925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs369681211	chr3:103257930-103257931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532092489	chr3:103257968-103257969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs144912828	chr3:103258001-103258002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs191145766	chr3:103258022-103258023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs180970695	chr3:103258194-103258195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs369136089	chr3:103258209-103258210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs536643417	chr3:103258214-103258215	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs369061526	chr3:103258240-103258241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs184998632	chr3:103258263-103258264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs569833718	chr3:103258314-103258315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs538268425	chr3:103258418-103258419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs556618593	chr3:103258440-103258441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs189610102	chr3:103258491-103258492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs376657514	chr3:103258492-103258493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs554262622	chr3:103258505-103258506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs372794003	chr3:103258517-103258518	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs542845040	chr3:103258561-103258562	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs555279067	chr3:103258592-103258593	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs77368291	chr3:103258676-103258677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs543672812	chr3:103258683-103258684	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs369459448	chr3:103258706-103258707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs564549029	chr3:103258723-103258724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs140679843	chr3:103258764-103258765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs554704453	chr3:103258779-103258780	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs562156931	chr3:103258788-103258789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs559172160	chr3:103258799-103258800	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs77076120	chr3:103258800-103258801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs74514105	chr3:103258830-103258831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138421447	chr3:103258947-103258948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs77785305	chr3:103258950-103258951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs183327462	chr3:103259013-103259014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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