Variant report

Variant	esv3377317
Chromosome Location	chr1:73236664-73240162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 104 )

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	rs556187385	chr1:73236693-73236694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2692855	chr1:73236706-73236707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544938795	chr1:73236721-73236722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564849638	chr1:73236782-73236783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572176141	chr1:73236783-73236784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540868479	chr1:73236790-73236791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6672077	chr1:73236812-73236813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2841187	chr1:73236826-73236827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs549800001	chr1:73236853-73236854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187083932	chr1:73236894-73236895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532025803	chr1:73236935-73236936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552076500	chr1:73236952-73236953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571852275	chr1:73236966-73236967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116696765	chr1:73236972-73236973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78781551	chr1:73236976-73236977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567748147	chr1:73236977-73236978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536377461	chr1:73237000-73237001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556124047	chr1:73237036-73237037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575996111	chr1:73237041-73237042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1358040	chr1:73237060-73237061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs541765407	chr1:73237067-73237068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368558191	chr1:73237165-73237166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558767766	chr1:73237170-73237171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572256743	chr1:73237171-73237172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541207429	chr1:73237234-73237235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535387316	chr1:73237264-73237265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560970843	chr1:73237298-73237299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61771931	chr1:73237338-73237339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541242245	chr1:73237369-73237370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76215393	chr1:73237415-73237416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563386734	chr1:73237428-73237429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532099587	chr1:73237435-73237436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183287502	chr1:73237444-73237445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188629207	chr1:73237451-73237452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528025289	chr1:73237470-73237471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547951541	chr1:73237480-73237481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115914056	chr1:73237481-73237482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143509395	chr1:73237568-73237569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115809323	chr1:73237580-73237581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569816210	chr1:73237606-73237607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538605486	chr1:73237654-73237655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558719335	chr1:73237696-73237697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565961468	chr1:73237719-73237720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114452277	chr1:73237874-73237875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554732458	chr1:73237880-73237881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1525986	chr1:73237902-73237903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147174233	chr1:73237936-73237937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192297276	chr1:73237967-73237968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78622792	chr1:73237969-73237970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577052940	chr1:73237974-73237975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73236600-73237200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:73236600-73237400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:73236800-73237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:73237200-73242400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links