Variant report

Variant	esv1797916
Chromosome Location	chr1:86529538-86556298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 927 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556796362	chr1:86529553-86529554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548189500	chr1:86529613-86529614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186303654	chr1:86529618-86529619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12354100	chr1:86529634-86529635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs41313268	chr1:86529638-86529639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572760568	chr1:86529667-86529668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115485152	chr1:86529726-86529727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567907854	chr1:86529773-86529774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558353942	chr1:86529809-86529810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370475470	chr1:86529850-86529851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12756057	chr1:86529918-86529919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543856630	chr1:86530006-86530007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563631547	chr1:86530060-86530061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529432923	chr1:86530063-86530064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111825281	chr1:86530064-86530065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542644410	chr1:86530140-86530141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375698917	chr1:86530184-86530185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528350898	chr1:86530192-86530193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190777410	chr1:86530243-86530244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571076359	chr1:86530249-86530250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546644812	chr1:86530323-86530324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550605436	chr1:86530454-86530455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567248067	chr1:86530456-86530457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139444381	chr1:86530473-86530474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536387777	chr1:86530474-86530475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12097262	chr1:86530490-86530491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566495898	chr1:86530504-86530505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535300336	chr1:86530546-86530547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558495603	chr1:86530598-86530599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140544947	chr1:86530613-86530614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116593566	chr1:86530630-86530631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537241965	chr1:86530677-86530678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545554130	chr1:86530752-86530753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58715856	chr1:86530754-86530755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113033207	chr1:86530883-86530884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542743701	chr1:86530890-86530891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559295701	chr1:86530945-86530946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572918540	chr1:86530977-86530978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544864047	chr1:86531030-86531031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149662400	chr1:86531033-86531034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530881117	chr1:86531085-86531086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183161290	chr1:86531164-86531165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572522751	chr1:86531228-86531229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185999245	chr1:86531239-86531240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541391766	chr1:86531283-86531284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529725263	chr1:86531293-86531294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546732261	chr1:86531317-86531318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566434228	chr1:86531385-86531386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538639054	chr1:86531439-86531440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71078636	chr1:86531440-86531441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86523000-86533800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:86527600-86530000	Weak transcription	Fetal Lung	lung
3	chr1:86528600-86533200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:86528600-86533200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:86528600-86534000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:86528800-86533000	Weak transcription	Osteobl	bone
7	chr1:86530000-86530200	Enhancers	Fetal Lung	lung
8	chr1:86530200-86530600	Weak transcription	Fetal Lung	lung
9	chr1:86530200-86531800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:86530400-86531800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:86530600-86530800	Enhancers	Fetal Lung	lung
12	chr1:86530600-86531000	Enhancers	HUVEC	blood vessel
13	chr1:86530600-86531400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:86530600-86531800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:86530800-86531200	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:86530800-86533800	Weak transcription	Fetal Lung	lung
17	chr1:86531000-86533000	Weak transcription	HUVEC	blood vessel
18	chr1:86531200-86531400	Enhancers	Fetal Muscle Leg	muscle
19	chr1:86531400-86533800	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:86531400-86534000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:86531800-86532200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:86531800-86533800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:86532600-86532800	Enhancers	Aorta	Aorta
24	chr1:86533000-86534000	Weak transcription	Aorta	Aorta
25	chr1:86533000-86535200	Enhancers	HUVEC	blood vessel
26	chr1:86533000-86535400	Enhancers	NHDF-Ad	bronchial
27	chr1:86533000-86535600	Enhancers	NH-A	brain
28	chr1:86533000-86535600	Enhancers	Osteobl	bone
29	chr1:86533200-86535200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:86533200-86535200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:86533800-86534000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:86533800-86534000	Enhancers	Fetal Stomach	stomach
33	chr1:86533800-86534200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:86533800-86534200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:86533800-86534200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:86533800-86534400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:86533800-86534400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:86533800-86534800	ZNF genes & repeats	Fetal Lung	lung
39	chr1:86533800-86535000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:86533800-86535200	Enhancers	HSMMtube	muscle
41	chr1:86533800-86535400	Enhancers	Fetal Muscle Leg	muscle
42	chr1:86533800-86535400	Enhancers	NHLF	lung
43	chr1:86533800-86535600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:86534000-86534400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:86534000-86534400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:86534000-86534400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr1:86534000-86534400	Enhancers	Aorta	Aorta
48	chr1:86534000-86534400	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:86534000-86534600	Enhancers	Esophagus	oesophagus
50	chr1:86534000-86534600	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links