Variant report

Variant	esv1802776
Chromosome Location	chr2:115628127-115647583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35F5-21	chr2:115635151-115635390	ucscGeneNc_uc002tld_2

Extended variants
information (count: 175 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs149104093	chr2:115635161-115635162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs376849356	chr2:115635162-115635163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs549260039	chr2:115635163-115635164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs181628811	chr2:115635165-115635166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs114677931	chr2:115635166-115635167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs551572942	chr2:115635167-115635168	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs570983914	chr2:115635204-115635205	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs367936520	chr2:115635293-115635294	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs187309159	chr2:115635320-115635321	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs35612935	chr2:115635349-115635350	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144899269	chr2:115635363-115635364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs571433207	chr2:115635364-115635365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs10192492	chr2:115637428-115637429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551663503	chr2:115637443-115637444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118001917	chr2:115637477-115637478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114446969	chr2:115637495-115637496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554050041	chr2:115637497-115637498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573713176	chr2:115637567-115637568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535963681	chr2:115637583-115637584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556248991	chr2:115637590-115637591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74349968	chr2:115637651-115637652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577022916	chr2:115637652-115637653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10168420	chr2:115637700-115637701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572227980	chr2:115637705-115637706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191598425	chr2:115637784-115637785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149632200	chr2:115637825-115637826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538425687	chr2:115637835-115637836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147322412	chr2:115637841-115637842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562599323	chr2:115637850-115637851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183550339	chr2:115637885-115637886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551333977	chr2:115637889-115637890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551877421	chr2:115637898-115637899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17732349	chr2:115637906-115637907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531193728	chr2:115637928-115637929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10207636	chr2:115637935-115637936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188829799	chr2:115637999-115638000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562662051	chr2:115638404-115638405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147363216	chr2:115638412-115638413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186817327	chr2:115638414-115638415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77670727	chr2:115638417-115638418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527639394	chr2:115638435-115638436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78953256	chr2:115638528-115638529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148418851	chr2:115638529-115638530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530254250	chr2:115638566-115638567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528415116	chr2:115638572-115638573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142573831	chr2:115638576-115638577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76710948	chr2:115638704-115638705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150552972	chr2:115638729-115638730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558634436	chr2:115638782-115638783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565540649	chr2:115638790-115638791	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115637400-115638000	Enhancers	Fetal Brain Female	brain
2	chr2:115638400-115639000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:115639000-115640600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:115640600-115641200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:115640600-115641200	Enhancers	Brain Hippocampus Middle	brain
6	chr2:115640600-115641400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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