Variant report

Variant	esv1795721
Chromosome Location	chr8:39467424-39489480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDO1-4	chr8:39468048-39468263	NONHSAT126178

Extended variants
information (count: 340 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73605940	chr8:39467440-39467441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539763882	chr8:39467567-39467568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368420850	chr8:39467576-39467577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548361085	chr8:39467585-39467586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185086413	chr8:39467631-39467632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534048017	chr8:39467659-39467660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190089757	chr8:39467667-39467668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73605943	chr8:39467692-39467693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149319132	chr8:39467706-39467707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144456046	chr8:39467710-39467711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565511470	chr8:39467777-39467778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534730600	chr8:39467790-39467791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181566641	chr8:39467859-39467860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574473254	chr8:39467875-39467876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543176886	chr8:39467897-39467898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200924990	chr8:39467903-39467904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543254937	chr8:39467904-39467905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201110239	chr8:39467967-39467968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561528576	chr8:39467971-39467972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576732402	chr8:39467997-39467998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369574720	chr8:39467998-39467999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202232780	chr8:39468015-39468016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139114737	chr8:39468070-39468071	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs147248851	chr8:39468073-39468074	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs367919364	chr8:39468085-39468086	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs575240108	chr8:39468106-39468107	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs549488812	chr8:39468107-39468108	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs201725440	chr8:39468117-39468118	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs369509127	chr8:39468118-39468119	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs369562039	chr8:39468121-39468122	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs73605945	chr8:39468128-39468129	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142986500	chr8:39468141-39468142	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs147230372	chr8:39468151-39468152	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs148690264	chr8:39468152-39468153	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs142169302	chr8:39468155-39468156	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs375908521	chr8:39468166-39468167	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs151185191	chr8:39468170-39468171	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs143967659	chr8:39468204-39468205	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs370884759	chr8:39468205-39468206	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs267601916	chr8:39468211-39468212	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs372919027	chr8:39468231-39468232	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs376919508	chr8:39468246-39468247	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs370789430	chr8:39468271-39468272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551203660	chr8:39468284-39468285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186687629	chr8:39468346-39468347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191981024	chr8:39468365-39468366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546941363	chr8:39468383-39468384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372606036	chr8:39468502-39468503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534369350	chr8:39468519-39468520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548160080	chr8:39468529-39468530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Cancer	21249187	CNVD
Autism	19287141	CNVD
Rett syndrome	21593744	CNVD
Recurrent pregnancy loss	19789632	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39466400-39469600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:39469600-39471000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr8:39470200-39470800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:39470200-39470800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:39470400-39470800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr8:39470800-39471800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:39470800-39476200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:39476200-39476400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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