Variant report

Variant	esv2451306
Chromosome Location	chr1:79554938-79556274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544872912	chr1:79554938-79554939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540302578	chr1:79554945-79554946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144661915	chr1:79554982-79554983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532542829	chr1:79555018-79555019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190612960	chr1:79555085-79555086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115948003	chr1:79555089-79555090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184892687	chr1:79555106-79555107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562349510	chr1:79555107-79555108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529802181	chr1:79555158-79555159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547963693	chr1:79555160-79555161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566466142	chr1:79555175-79555176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61769012	chr1:79555223-79555224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551934233	chr1:79555236-79555237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35947561	chr1:79555240-79555241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540502697	chr1:79555268-79555269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537554983	chr1:79555271-79555272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556261097	chr1:79555279-79555280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557720800	chr1:79555316-79555317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146704915	chr1:79555344-79555345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76296315	chr1:79555371-79555372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112177256	chr1:79555383-79555384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182963222	chr1:79555405-79555406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374597489	chr1:79555439-79555440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12040595	chr1:79555483-79555484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558682776	chr1:79555551-79555552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7540189	chr1:79555668-79555669	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116524726	chr1:79555700-79555701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370316522	chr1:79555715-79555716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578164611	chr1:79555716-79555717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541802324	chr1:79555726-79555727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143747384	chr1:79555742-79555743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565856280	chr1:79555797-79555798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76532608	chr1:79555805-79555806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367626454	chr1:79555834-79555835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11808377	chr1:79555869-79555870	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527596127	chr1:79555944-79555945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12090944	chr1:79555963-79555964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144509428	chr1:79555983-79555984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75352580	chr1:79555991-79555992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531309164	chr1:79556002-79556003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549781730	chr1:79556033-79556034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7531214	chr1:79556037-79556038	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs535535434	chr1:79556058-79556059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556680294	chr1:79556061-79556062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540571715	chr1:79556095-79556096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548846180	chr1:79556096-79556097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548985041	chr1:79556110-79556111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567006957	chr1:79556127-79556128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570431125	chr1:79556162-79556163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559168756	chr1:79556202-79556203	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79546000-79555000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:79554200-79555400	Enhancers	HMEC	breast
3	chr1:79554800-79555200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:79555000-79557200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:79555200-79556200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:79555400-79555800	Weak transcription	HMEC	breast
7	chr1:79555800-79557200	Enhancers	HMEC	breast
8	chr1:79556200-79556400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links