Variant report

Variant	esv3412518
Chromosome Location	chr8:62212932-62216120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:62213633-62213752	K562	blood:	n/a	n/a
2	CEBPB	chr8:62214109-62214520	HepG2	liver:	n/a	chr8:62214277-62214288
3	CEBPB	chr8:62214183-62214560	A549	lung:	n/a	chr8:62214277-62214288
4	JUND	chr8:62213505-62213702	K562	blood:	n/a	n/a
5	MAFK	chr8:62213890-62213996	HepG2	liver:	n/a	n/a
6	MAFK	chr8:62213899-62213993	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:62214942-62215081	MCF10A-Er-Src	breast:	n/a	n/a
8	RUNX3	chr8:62214514-62214849	GM12878	blood:	n/a	chr8:62214693-62214702

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPH-3	chr8:62213379-62213577	ENSG00000253711.1
2	lnc-ASPH-3	chr8:62213078-62213152	ENSG00000253711.1

Variant related genes	Relation type
ENSG00000253711	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192182348	chr8:62212965-62212966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140070158	chr8:62212968-62212969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143659247	chr8:62212975-62212976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372343799	chr8:62213060-62213061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546323252	chr8:62213064-62213065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184351308	chr8:62213078-62213079	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs372123616	chr8:62213112-62213113	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs61409316	chr8:62213125-62213126	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576318830	chr8:62213167-62213168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2978557	chr8:62213209-62213210	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561724942	chr8:62213328-62213329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565861857	chr8:62213357-62213358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111647887	chr8:62213488-62213489	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs529688018	chr8:62213493-62213494	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs371295134	chr8:62213507-62213508	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs547914754	chr8:62213509-62213510	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs527710418	chr8:62213536-62213537	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs569639427	chr8:62213552-62213553	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs145013231	chr8:62213591-62213592	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558248670	chr8:62213626-62213627	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs570697761	chr8:62213628-62213629	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs149074811	chr8:62213672-62213673	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs189969814	chr8:62213718-62213719	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs564574596	chr8:62213731-62213732	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533267899	chr8:62213744-62213745	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs6997673	chr8:62213747-62213748	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs193292677	chr8:62213756-62213757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575805153	chr8:62213902-62213903	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs557027242	chr8:62213907-62213908	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs575616087	chr8:62213982-62213983	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185493720	chr8:62214001-62214002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535727374	chr8:62214009-62214010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112412887	chr8:62214025-62214026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532323292	chr8:62214037-62214038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375962307	chr8:62214063-62214064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73253158	chr8:62214073-62214074	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189568980	chr8:62214082-62214083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369174317	chr8:62214090-62214091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565996323	chr8:62214138-62214139	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs142241071	chr8:62214154-62214155	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs569519523	chr8:62214159-62214160	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530459563	chr8:62214163-62214164	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs3889296	chr8:62214175-62214176	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2931296	chr8:62214205-62214206	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534880204	chr8:62214221-62214222	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115768507	chr8:62214244-62214245	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs568643167	chr8:62214268-62214269	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs114036818	chr8:62214328-62214329	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs557650131	chr8:62214364-62214365	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575533090	chr8:62214373-62214374	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62202000-62216800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62203400-62216800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:62203400-62217000	Weak transcription	Brain Anterior Caudate	brain
4	chr8:62204400-62216800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:62204600-62217000	Weak transcription	Fetal Brain Male	brain
6	chr8:62211200-62215800	Weak transcription	Brain Germinal Matrix	brain
7	chr8:62211800-62215200	Strong transcription	Fetal Brain Female	brain
8	chr8:62211800-62220400	Weak transcription	GM12878-XiMat	blood
9	chr8:62212000-62216600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:62213400-62217400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:62215200-62223800	Weak transcription	Fetal Brain Female	brain
12	chr8:62215800-62216800	Strong transcription	Brain Germinal Matrix	brain

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