Variant report

Variant	esv3509488
Chromosome Location	chr1:56829121-56835877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574701749	chr1:56829129-56829130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377230395	chr1:56829167-56829168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562557892	chr1:56829192-56829193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191899020	chr1:56829205-56829206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185091622	chr1:56829216-56829217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79971467	chr1:56829253-56829254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144421724	chr1:56829310-56829311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188752407	chr1:56829349-56829350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147838279	chr1:56829380-56829381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17113792	chr1:56829396-56829397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373627030	chr1:56829572-56829573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552296077	chr1:56829590-56829591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528619067	chr1:56829606-56829607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12120105	chr1:56829637-56829638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs376143352	chr1:56829645-56829646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116144244	chr1:56829648-56829649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74073812	chr1:56829662-56829663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369383990	chr1:56829683-56829684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148908882	chr1:56829724-56829725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142492435	chr1:56829730-56829731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545777027	chr1:56829751-56829752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572720831	chr1:56829811-56829812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576084634	chr1:56829850-56829851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541593588	chr1:56829855-56829856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150927237	chr1:56829866-56829867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527455595	chr1:56829902-56829903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115819351	chr1:56829958-56829959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563996251	chr1:56829967-56829968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375537912	chr1:56829975-56829976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193035704	chr1:56830020-56830021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552538086	chr1:56830058-56830059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140736343	chr1:56830068-56830069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6588623	chr1:56830070-56830071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185727353	chr1:56830144-56830145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35127963	chr1:56830223-56830224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529448228	chr1:56830290-56830291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568594028	chr1:56830313-56830314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72662223	chr1:56830432-56830433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187967711	chr1:56830454-56830455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530154165	chr1:56830473-56830474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180826750	chr1:56830475-56830476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539792335	chr1:56830493-56830494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377555495	chr1:56830505-56830506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12564902	chr1:56830568-56830569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146203725	chr1:56830570-56830571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137947501	chr1:56830591-56830592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188458493	chr1:56830592-56830593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77258809	chr1:56830696-56830697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551763064	chr1:56830741-56830742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566882415	chr1:56830768-56830769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56825400-56829600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:56825400-56839000	Weak transcription	Psoas Muscle	Psoas
3	chr1:56827800-56829600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:56827800-56830000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:56827800-56830000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:56828000-56829600	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:56828000-56829800	Enhancers	Brain Hippocampus Middle	brain
8	chr1:56828200-56829600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:56828600-56829600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:56828600-56829800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:56828600-56829800	Enhancers	Brain Anterior Caudate	brain
12	chr1:56828600-56829800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:56828800-56829400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:56828800-56829600	Enhancers	Brain Substantia Nigra	brain
15	chr1:56828800-56829800	Enhancers	HepG2	liver
16	chr1:56829000-56829400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:56829000-56829400	Enhancers	Left Ventricle	heart
18	chr1:56829000-56829800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:56829400-56829800	Enhancers	Brain Angular Gyrus	brain
20	chr1:56829600-56829800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:56829800-56830800	Weak transcription	HepG2	liver
22	chr1:56830800-56831000	Enhancers	HepG2	liver
23	chr1:56835000-56836200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:56835400-56836000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:56835400-56836000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:56835400-56836200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:56835600-56836000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:56835600-56836000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:56835600-56836000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:56835600-56836200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:56835600-56837000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:56835600-56837200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:56835800-56837000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:56835800-56837200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:56835800-56837200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:56835800-56837200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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