Variant report

Variant	nsv963166
Chromosome Location	chr2:110424979-110429030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD57-2	chr2:110425357-110425579	NONHSAT073148

Extended variants
information (count: 171 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs534403414	chr2:110424988-110424989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188952647	chr2:110424989-110424990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574541392	chr2:110425001-110425002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143911907	chr2:110425009-110425010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563249470	chr2:110425043-110425044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58705212	chr2:110425057-110425058	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545817975	chr2:110425108-110425109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559468371	chr2:110425125-110425126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4953764	chr2:110425136-110425137	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548385999	chr2:110425157-110425158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562354601	chr2:110425193-110425194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147279625	chr2:110425280-110425281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529894319	chr2:110425282-110425283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550713426	chr2:110425292-110425293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551154504	chr2:110425317-110425318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547691988	chr2:110425365-110425366	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs540116108	chr2:110425382-110425383	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs1036316	chr2:110425390-110425391	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7575793	chr2:110425427-110425428	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs144977631	chr2:110425467-110425468	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs146486089	chr2:110425468-110425469	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs113740384	chr2:110425470-110425471	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs3065964	chr2:110425472-110425473	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs79898027	chr2:110425473-110425474	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs386649138	chr2:110425608-110425609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534760170	chr2:110425609-110425610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78214157	chr2:110425635-110425636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60422565	chr2:110425641-110425642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191783627	chr2:110425642-110425643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553289708	chr2:110425656-110425657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140834736	chr2:110425669-110425670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142258546	chr2:110425696-110425697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573096305	chr2:110425704-110425705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538823136	chr2:110425716-110425717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576757529	chr2:110425721-110425722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183995123	chr2:110425731-110425732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189334527	chr2:110425740-110425741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573153448	chr2:110425751-110425752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542160386	chr2:110425754-110425755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35727718	chr2:110425831-110425832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150825611	chr2:110425859-110425860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371053112	chr2:110425923-110425924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375749011	chr2:110425924-110425925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368198300	chr2:110425927-110425928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115574182	chr2:110425928-110425929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530993102	chr2:110425957-110425958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544848363	chr2:110425965-110425966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537125814	chr2:110425978-110425979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544270849	chr2:110425979-110425980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564654248	chr2:110425980-110425981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110420400-110425000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:110421600-110425000	Weak transcription	Esophagus	oesophagus
3	chr2:110421600-110438600	Weak transcription	Right Atrium	heart
4	chr2:110422000-110426200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:110424200-110425000	Enhancers	Aorta	Aorta
6	chr2:110424800-110425000	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:110424800-110425200	Enhancers	Fetal Brain Male	brain
8	chr2:110424800-110425400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:110425000-110425200	Enhancers	Esophagus	oesophagus
10	chr2:110425000-110425600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:110425400-110432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:110425600-110429000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:110426200-110426800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:110427400-110429000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:110428200-110428400	Enhancers	HepG2	liver
16	chr2:110428400-110429000	Flanking Active TSS	HepG2	liver
17	chr2:110428800-110429000	ZNF genes & repeats	Gastric	stomach
18	chr2:110429000-110429200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:110429000-110429200	Enhancers	HepG2	liver
20	chr2:110429000-110441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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