Variant report

Variant	esv13839
Chromosome Location	chr8:112552331-112554291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-422N16.3.1-4	chr8:112554278-112554452	ENSG00000253434.1

Extended variants
information (count: 61 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183929377	chr8:112552811-112552812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7006444	chr8:112552812-112552813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7006161	chr8:112552816-112552817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562705073	chr8:112552817-112552818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537779995	chr8:112552836-112552837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2606205	chr8:112552852-112552853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187709415	chr8:112552892-112552893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542997599	chr8:112552906-112552907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150298056	chr8:112552964-112552965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368877404	chr8:112552965-112552966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535965353	chr8:112552967-112552968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553050263	chr8:112553000-112553001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148526284	chr8:112553008-112553009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545143374	chr8:112553028-112553029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557025348	chr8:112553041-112553042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71526794	chr8:112553086-112553087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7010351	chr8:112553100-112553101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191612961	chr8:112553110-112553111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73704570	chr8:112553111-112553112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7010597	chr8:112553113-112553114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs183759400	chr8:112553162-112553163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6992650	chr8:112553167-112553168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7010371	chr8:112553186-112553187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188799822	chr8:112553293-112553294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73704571	chr8:112553296-112553297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1966587	chr8:112553385-112553386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28437873	chr8:112553405-112553406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6993002	chr8:112553421-112553422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192627590	chr8:112553427-112553428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201013263	chr8:112553459-112553460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372493364	chr8:112553466-112553467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144278853	chr8:112553491-112553492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386413689	chr8:112553492-112553493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368193001	chr8:112553493-112553494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59872143	chr8:112553494-112553495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554493943	chr8:112553518-112553519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184767556	chr8:112553537-112553538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554482340	chr8:112553580-112553581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568021652	chr8:112553626-112553627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533798723	chr8:112553648-112553649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375185944	chr8:112553660-112553661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34638318	chr8:112553710-112553711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60149554	chr8:112553715-112553716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553353603	chr8:112553716-112553717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398009403	chr8:112553722-112553723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573120699	chr8:112553730-112553731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28641608	chr8:112553757-112553758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534200452	chr8:112553815-112553816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559090951	chr8:112553872-112553873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375436427	chr8:112553888-112553889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112552800-112557800	Weak transcription	Adipose Nuclei	Adipose

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