Variant report

Variant	esv3337189
Chromosome Location	chr1:76001414-76003812
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	BACH1	chr1:76003667-76003673	K562	blood:	n/a	n/a
2	POLR2A	chr1:76002520-76002829	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-503P	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187401832	chr1:76001464-76001465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560761891	chr1:76001488-76001489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575675302	chr1:76001507-76001508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143325467	chr1:76001521-76001522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373277194	chr1:76001539-76001540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564960803	chr1:76001541-76001542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192093161	chr1:76001622-76001623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7541214	chr1:76001635-76001636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564264713	chr1:76001665-76001666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371127081	chr1:76001703-76001704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80022107	chr1:76001723-76001724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201274280	chr1:76001731-76001732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566777558	chr1:76001761-76001762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540439452	chr1:76001788-76001789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534179361	chr1:76001905-76001906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148012549	chr1:76001907-76001908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184278892	chr1:76001954-76001955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373635085	chr1:76001960-76001961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187969047	chr1:76001971-76001972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557151090	chr1:76002003-76002004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575500458	chr1:76002010-76002011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542601965	chr1:76002012-76002013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554834330	chr1:76002022-76002023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548159752	chr1:76002037-76002038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540199396	chr1:76002056-76002057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561564272	chr1:76002102-76002103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532040772	chr1:76002110-76002111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543896284	chr1:76002111-76002112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71656835	chr1:76002116-76002117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557672802	chr1:76002128-76002129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376829243	chr1:76002129-76002130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58913392	chr1:76002136-76002137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562792295	chr1:76002140-76002141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs211750	chr1:76002147-76002148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550660865	chr1:76002158-76002159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567117037	chr1:76002170-76002171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12748396	chr1:76002182-76002183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570569517	chr1:76002203-76002204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs211749	chr1:76002204-76002205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570965498	chr1:76002218-76002219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs211748	chr1:76002219-76002220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192799117	chr1:76002242-76002243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71656836	chr1:76002281-76002282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12072580	chr1:76002283-76002284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61201933	chr1:76002299-76002300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12074533	chr1:76002303-76002304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200382801	chr1:76002307-76002308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58064515	chr1:76002310-76002311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57059941	chr1:76002312-76002313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199586321	chr1:76002315-76002316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76000000-76008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76000400-76005000	Weak transcription	HUVEC	blood vessel

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