Variant report

Variant	esv3422721
Chromosome Location	chr1:78676614-78679112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561921925	chr1:78676643-78676644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111489481	chr1:78676678-78676679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180949942	chr1:78676757-78676758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202105823	chr1:78676810-78676811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547050684	chr1:78676828-78676829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547523300	chr1:78676877-78676878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184031748	chr1:78677017-78677018	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373032852	chr1:78677047-78677048	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539919112	chr1:78677130-78677131	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs551069368	chr1:78677159-78677160	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs571214890	chr1:78677168-78677169	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79368937	chr1:78677231-78677232	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112008151	chr1:78677250-78677251	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs56365604	chr1:78677279-78677280	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537313512	chr1:78677322-78677323	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555604017	chr1:78677323-78677324	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148480527	chr1:78677335-78677336	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559485615	chr1:78677393-78677394	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554286816	chr1:78677409-78677410	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77172098	chr1:78677540-78677541	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142731589	chr1:78677543-78677544	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564286043	chr1:78677572-78677573	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150920007	chr1:78677580-78677581	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs618063	chr1:78677648-78677649	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs561956098	chr1:78677651-78677652	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188621471	chr1:78677674-78677675	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370907692	chr1:78677675-78677676	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559428310	chr1:78677697-78677698	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561887484	chr1:78677724-78677725	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551372588	chr1:78677725-78677726	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530774381	chr1:78677736-78677737	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569503462	chr1:78677737-78677738	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537352583	chr1:78677754-78677755	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs618581	chr1:78677788-78677789	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs372825960	chr1:78677813-78677814	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202203780	chr1:78677815-78677816	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112792481	chr1:78677871-78677872	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534839369	chr1:78677881-78677882	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552874392	chr1:78677920-78677921	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572516067	chr1:78677924-78677925	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75200340	chr1:78677931-78677932	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558139126	chr1:78677997-78677998	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575990039	chr1:78678057-78678058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74423504	chr1:78678074-78678075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372186153	chr1:78678075-78678076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562092472	chr1:78678098-78678099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181389014	chr1:78678126-78678127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12406019	chr1:78678130-78678131	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs541646124	chr1:78678263-78678264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114059228	chr1:78678265-78678266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78675800-78676800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:78675800-78677400	Enhancers	HMEC	breast
3	chr1:78676000-78677400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:78676800-78677200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:78676800-78678000	Enhancers	Esophagus	oesophagus
6	chr1:78677000-78677200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:78677000-78677400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:78677000-78677600	ZNF genes & repeats	Aorta	Aorta
9	chr1:78677200-78677400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:78677200-78677800	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr1:78677400-78677600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:78677400-78677800	ZNF genes & repeats	Gastric	stomach
13	chr1:78677400-78678000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:78677400-78678000	ZNF genes & repeats	Pancreas	Pancrea
15	chr1:78677400-78680400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:78677400-78681200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:78677600-78677800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:78677600-78678000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:78677600-78678000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:78678000-78680000	Weak transcription	Esophagus	oesophagus
21	chr1:78678000-78680800	Weak transcription	Pancreas	Pancrea
22	chr1:78678000-78681800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links