Variant report

Variant	esv3331895
Chromosome Location	chr1:73183764-73189062
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	chr1:73186123-73186204	Medullo	brain:	n/a	n/a
2	CTCF	chr1:73186111-73186225	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr1:73186183-73186242	HUVEC	blood vessel:	n/a	n/a
4	MAFF	chr1:73184298-73184570	HepG2	liver:	n/a	chr1:73184448-73184466
5	MAFK	chr1:73184293-73184618	HepG2	liver:	n/a	chr1:73184449-73184464
6	MAFK	chr1:73184341-73184572	HepG2	liver:	n/a	chr1:73184449-73184464
7	POLR2A	chr1:73185325-73185414	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73185954..73186525-chr1:73310681..73311355,2	MCF-7	breast:
2	chr1:73181346..73184286-chr1:73186090..73189025,2	K562	blood:

Variant related genes	Relation type
RNU6-1246P	TF binding region
ENSG00000212366	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567817316	chr1:73184326-73184327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs148112717	chr1:73184370-73184371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528077211	chr1:73184383-73184384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs369309431	chr1:73184392-73184393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567903576	chr1:73184396-73184397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs536835811	chr1:73184419-73184420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182645328	chr1:73184421-73184422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377287419	chr1:73184501-73184502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570280454	chr1:73184542-73184543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539095187	chr1:73184571-73184572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs6685349	chr1:73186096-73186097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75412374	chr1:73186102-73186103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72948923	chr1:73186150-73186151	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116387734	chr1:73186211-73186212	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192025843	chr1:73186225-73186226	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113650281	chr1:73186231-73186232	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566287402	chr1:73186243-73186244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528541827	chr1:73186278-73186279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548670003	chr1:73186296-73186297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568313714	chr1:73186320-73186321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537091616	chr1:73186338-73186339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78038289	chr1:73186346-73186347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556827470	chr1:73186394-73186395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185265384	chr1:73186405-73186406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539223877	chr1:73186414-73186415	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141957762	chr1:73186416-73186417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189677672	chr1:73186446-73186447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370275030	chr1:73186475-73186476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs58027093	chr1:73186497-73186498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181323168	chr1:73186516-73186517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144244748	chr1:73186558-73186559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186728625	chr1:73186567-73186568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544262062	chr1:73186712-73186713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563951769	chr1:73186772-73186773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188145733	chr1:73186797-73186798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs5775143	chr1:73186867-73186868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34259142	chr1:73186877-73186878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3980364	chr1:73186883-73186884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370755800	chr1:73186884-73186885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376862926	chr1:73186893-73186894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs202006014	chr1:73186920-73186921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374510609	chr1:73186949-73186950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546533684	chr1:73186960-73186961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559647860	chr1:73186973-73186974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371856143	chr1:73186974-73186975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs180951254	chr1:73187011-73187012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548388094	chr1:73187133-73187134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115628323	chr1:73187205-73187206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2255225	chr1:73187211-73187212	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs550587735	chr1:73187284-73187285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links