Variant report

Variant	esv3400141
Chromosome Location	chr1:92787714-92789662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92763470..92767298-chr1:92785657..92788225,3	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location
1	RPAP2	hsa-miR-192-5p	chr1:92789423-92789444
2	RPAP2	hsa-miR-215-5p	chr1:92789508-92789528
3	RPAP2	hsa-miR-192-5p	chr1:92789508-92789528
4	RPAP2	hsa-miR-215-5p	chr1:92789423-92789444

Variant related genes	Relation type
ENSG00000122484	chromatin interactions
ENSG00000174842	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185068607	chr1:92787754-92787755	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563967085	chr1:92787769-92787770	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs386633450	chr1:92787800-92787801	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115710757	chr1:92787801-92787802	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557587446	chr1:92787892-92787893	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564115060	chr1:92787967-92787968	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538761327	chr1:92788065-92788066	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548976382	chr1:92788125-92788126	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568905862	chr1:92788126-92788127	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546656150	chr1:92788132-92788133	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115965797	chr1:92788154-92788155	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189392838	chr1:92788159-92788160	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529040753	chr1:92788187-92788188	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550514552	chr1:92788270-92788271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181832951	chr1:92788294-92788295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539742271	chr1:92788309-92788310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140669136	chr1:92788348-92788349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145793080	chr1:92788356-92788357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533790656	chr1:92788374-92788375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370820611	chr1:92788413-92788414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376354298	chr1:92788415-92788416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377721330	chr1:92788416-92788417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370427372	chr1:92788417-92788418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67303668	chr1:92788418-92788419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35861669	chr1:92788419-92788420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113807657	chr1:92788423-92788424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201040579	chr1:92788472-92788473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555393509	chr1:92788538-92788539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571452073	chr1:92788592-92788593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374769115	chr1:92788633-92788634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573662874	chr1:92788634-92788635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11578012	chr1:92788644-92788645	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557266030	chr1:92788693-92788694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6693801	chr1:92788704-92788705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2046621	chr1:92788769-92788770	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376798828	chr1:92788777-92788778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572875459	chr1:92788784-92788785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540273533	chr1:92788788-92788789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189693554	chr1:92788796-92788797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529363088	chr1:92788863-92788864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541730415	chr1:92788906-92788907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551101601	chr1:92788939-92788940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181317777	chr1:92788948-92788949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367821342	chr1:92788959-92788960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551668822	chr1:92788962-92788963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372690637	chr1:92788988-92788989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186580530	chr1:92788998-92788999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200971487	chr1:92789017-92789018	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148473183	chr1:92789018-92789019	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561687972	chr1:92789058-92789059	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
3	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
4	chr1:92765600-92789600	Weak transcription	Psoas Muscle	Psoas
5	chr1:92765600-92791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:92765600-92791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:92765600-92791800	Weak transcription	Lung	lung
8	chr1:92765600-92791800	Weak transcription	Pancreas	Pancrea
9	chr1:92765600-92791800	Weak transcription	Right Ventricle	heart
10	chr1:92765600-92792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:92765600-92792000	Weak transcription	Spleen	Spleen
12	chr1:92765800-92789000	Weak transcription	Ovary	ovary
13	chr1:92765800-92789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:92765800-92791600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:92765800-92791800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:92765800-92791800	Weak transcription	Gastric	stomach
17	chr1:92765800-92850000	Weak transcription	Small Intestine	intestine
18	chr1:92766000-92792000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:92766200-92789000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:92766400-92791600	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:92770600-92789000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:92770800-92788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:92771000-92791400	Weak transcription	NHEK	skin
24	chr1:92771800-92789000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:92771800-92789000	Weak transcription	A549	lung
26	chr1:92771800-92794800	Weak transcription	Brain Angular Gyrus	brain
27	chr1:92771800-92823800	Weak transcription	Colonic Mucosa	Colon
28	chr1:92772000-92789000	Weak transcription	HepG2	liver
29	chr1:92772000-92789400	Weak transcription	Fetal Brain Male	brain
30	chr1:92773000-92800800	Weak transcription	NHDF-Ad	bronchial
31	chr1:92773800-92791800	Weak transcription	NHLF	lung
32	chr1:92774000-92791800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:92774200-92788800	Weak transcription	Left Ventricle	heart
34	chr1:92774200-92789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:92774200-92789000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:92774200-92789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:92774200-92789200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:92774200-92791800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:92774200-92791800	Weak transcription	Thymus	Thymus
40	chr1:92774400-92789000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:92774800-92789000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:92774800-92789200	Weak transcription	HSMMtube	muscle
43	chr1:92776800-92789200	Weak transcription	GM12878-XiMat	blood
44	chr1:92777200-92789000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:92777400-92789200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:92778000-92791800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:92778000-92799200	Weak transcription	Hela-S3	cervix
48	chr1:92778200-92789000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:92778200-92790000	Weak transcription	HMEC	breast
50	chr1:92778400-92789000	Weak transcription	Primary B cells from cord blood	blood

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