Variant report

Variant	nsv961873
Chromosome Location	chr2:114310836-114328595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC016745.1-6	chr2:114317310-114317403	l_1930_chr2:114303057-114317403_testes
2	lnc-AC016745.1-6	chr2:114317311-114317403	NONHSAT073800

Extended variants
information (count: 615 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550317758	chr2:114310885-114310886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570225577	chr2:114310906-114310907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539254546	chr2:114310982-114310983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200457514	chr2:114311012-114311013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566410029	chr2:114311027-114311028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534313246	chr2:114311072-114311073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62159266	chr2:114311075-114311076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554104132	chr2:114311175-114311176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182123015	chr2:114311195-114311196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536714950	chr2:114311204-114311205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148926196	chr2:114311223-114311224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1739553	chr2:114311242-114311243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556672252	chr2:114311247-114311248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2441652	chr2:114311395-114311396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576942374	chr2:114311399-114311400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3982815	chr2:114311413-114311414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546026549	chr2:114311414-114311415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2441651	chr2:114311439-114311440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559380010	chr2:114311443-114311444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573054634	chr2:114311462-114311463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541764666	chr2:114311463-114311464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368563851	chr2:114311488-114311489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3982816	chr2:114311497-114311498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3982817	chr2:114311509-114311510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3982818	chr2:114311510-114311511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3982819	chr2:114311513-114311514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530130567	chr2:114311540-114311541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550281452	chr2:114311585-114311586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563799294	chr2:114311613-114311614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532593215	chr2:114311617-114311618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3982820	chr2:114311643-114311644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188590479	chr2:114311644-114311645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566151544	chr2:114311645-114311646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2921896	chr2:114311674-114311675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2418662	chr2:114311708-114311709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535275581	chr2:114311730-114311731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548487461	chr2:114311770-114311771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371753094	chr2:114311790-114311791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6715091	chr2:114311798-114311799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111990609	chr2:114311814-114311815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567702990	chr2:114311819-114311820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111386557	chr2:114311854-114311855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574697927	chr2:114311870-114311871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201472946	chr2:114311874-114311875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536677266	chr2:114311894-114311895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6715195	chr2:114311898-114311899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112411845	chr2:114311901-114311902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112681582	chr2:114311910-114311911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6715203	chr2:114311926-114311927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565477691	chr2:114311930-114311931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114309600-114314200	Weak transcription	Fetal Lung	lung
2	chr2:114309800-114314400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:114311200-114311400	Enhancers	Fetal Stomach	stomach
4	chr2:114311400-114340400	Weak transcription	Fetal Stomach	stomach
5	chr2:114314200-114315200	Strong transcription	Fetal Lung	lung
6	chr2:114314400-114315200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:114314600-114339000	Weak transcription	NHLF	lung
8	chr2:114315200-114316800	Weak transcription	Fetal Lung	lung
9	chr2:114315200-114324600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:114319600-114319800	Enhancers	NHDF-Ad	bronchial
11	chr2:114320400-114320600	Enhancers	NHDF-Ad	bronchial
12	chr2:114324000-114326800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:114324400-114325400	Enhancers	K562	blood
14	chr2:114324600-114325000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:114325000-114325400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:114325400-114326200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:114325400-114327000	Weak transcription	K562	blood
18	chr2:114326200-114332600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:114327000-114327200	Enhancers	K562	blood
20	chr2:114327200-114327600	Weak transcription	K562	blood
21	chr2:114327600-114328600	Enhancers	K562	blood
22	chr2:114327600-114329200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:114327600-114329800	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links