Variant report

Variant	esv2764222
Chromosome Location	chr1:102323621-102327143
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	CTCF	chr1:102324136-102324269	Lung_OC	lung:	n/a	n/a
2	MYC	chr1:102325803-102326166	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-352P	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543816790	chr1:102323693-102323694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527967331	chr1:102323723-102323724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113103860	chr1:102323735-102323736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541778660	chr1:102323740-102323741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529596615	chr1:102323749-102323750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12122953	chr1:102323776-102323777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543708271	chr1:102323781-102323782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559891684	chr1:102323835-102323836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147829620	chr1:102323896-102323897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11164315	chr1:102323899-102323900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111261787	chr1:102323946-102323947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182758576	chr1:102323952-102323953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537405947	chr1:102323991-102323992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574038410	chr1:102324013-102324014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549752597	chr1:102324022-102324023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568010451	chr1:102324052-102324053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541548905	chr1:102324104-102324105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375973400	chr1:102324109-102324110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188124590	chr1:102324145-102324146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs192899345	chr1:102324164-102324165	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572248039	chr1:102324172-102324173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141413991	chr1:102324180-102324181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs549962489	chr1:102324189-102324190	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558250062	chr1:102324198-102324199	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576621554	chr1:102324216-102324217	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145316031	chr1:102324233-102324234	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186980535	chr1:102324280-102324281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144888634	chr1:102324287-102324288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185359289	chr1:102324313-102324314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541686247	chr1:102324316-102324317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559838512	chr1:102324339-102324340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559638606	chr1:102324349-102324350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149045400	chr1:102324351-102324352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551565777	chr1:102324436-102324437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370041585	chr1:102324450-102324451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11164316	chr1:102324460-102324461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531429955	chr1:102324465-102324466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187218782	chr1:102324470-102324471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192536833	chr1:102324499-102324500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535133904	chr1:102324552-102324553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184578500	chr1:102324564-102324565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545611941	chr1:102324566-102324567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6661052	chr1:102324578-102324579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs532309052	chr1:102324620-102324621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548989443	chr1:102324650-102324651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4642900	chr1:102324660-102324661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143029154	chr1:102324664-102324665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200034647	chr1:102324678-102324679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148210314	chr1:102324679-102324680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567719565	chr1:102324759-102324760	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102323200-102324600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:102323600-102324600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:102324600-102325600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:102324600-102327200	Enhancers	Fetal Intestine Small	intestine
5	chr1:102324600-102328200	Enhancers	Fetal Intestine Large	intestine
6	chr1:102325600-102325800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:102325800-102326800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:102326800-102327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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