Variant report

Variant	esv2762184
Chromosome Location	chr1:112801661-112805968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112796716..112800134-chr1:112801782..112804479,3	MCF-7	breast:
2	chr1:112801731..112804548-chr1:112808413..112809966,2	K562	blood:
3	chr1:112803413..112805956-chr1:112808541..112810766,2	MCF-7	breast:

Extended variants
information (count: 152 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184148525	chr1:112801667-112801668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554725063	chr1:112801680-112801681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12026605	chr1:112801723-112801724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs147685801	chr1:112801760-112801761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536563621	chr1:112801777-112801778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576755168	chr1:112801894-112801895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114950976	chr1:112801924-112801925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187614958	chr1:112801927-112801928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17029869	chr1:112801932-112801933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17029871	chr1:112801961-112801962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530089566	chr1:112801977-112801978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546775744	chr1:112802130-112802131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560574041	chr1:112802165-112802166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189758488	chr1:112802174-112802175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552861739	chr1:112802199-112802200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569542777	chr1:112802249-112802250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538454768	chr1:112802267-112802268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114228095	chr1:112802285-112802286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562450149	chr1:112802309-112802310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142452111	chr1:112802315-112802316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182060655	chr1:112802349-112802350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34859640	chr1:112802385-112802386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386634690	chr1:112802386-112802387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs66966657	chr1:112802387-112802388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72976074	chr1:112802433-112802434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183568130	chr1:112802449-112802450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188564647	chr1:112802452-112802453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541628733	chr1:112802516-112802517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544746295	chr1:112802522-112802523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2998331	chr1:112802560-112802561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192843877	chr1:112802586-112802587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4590669	chr1:112802600-112802601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs560362370	chr1:112802636-112802637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532559812	chr1:112802643-112802644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545839804	chr1:112802656-112802657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552567491	chr1:112802697-112802698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7513316	chr1:112802797-112802798	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34567361	chr1:112802830-112802831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531993886	chr1:112802833-112802834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7527349	chr1:112802869-112802870	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs184967561	chr1:112802876-112802877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551962864	chr1:112802909-112802910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534111355	chr1:112802927-112802928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547493714	chr1:112802999-112803000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4491059	chr1:112803003-112803004	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539428459	chr1:112803039-112803040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555693101	chr1:112803067-112803068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569307803	chr1:112803070-112803071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553336752	chr1:112803098-112803099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555225207	chr1:112803101-112803102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112788800-112812200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:112798800-112805000	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:112799000-112803400	Weak transcription	HSMMtube	muscle
4	chr1:112800000-112805200	Weak transcription	HSMM	muscle
5	chr1:112800200-112805600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:112801400-112802000	Enhancers	Small Intestine	intestine
7	chr1:112801400-112802200	Enhancers	Fetal Stomach	stomach
8	chr1:112801600-112802800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:112801600-112804800	Weak transcription	Right Atrium	heart
10	chr1:112801800-112802000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:112802000-112802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:112802000-112806800	Weak transcription	Small Intestine	intestine
13	chr1:112802200-112805000	Weak transcription	Fetal Stomach	stomach
14	chr1:112802600-112804000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:112802600-112804200	Enhancers	Brain Substantia Nigra	brain
16	chr1:112802800-112803200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:112802800-112803400	Enhancers	Brain Angular Gyrus	brain
18	chr1:112802800-112803600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:112802800-112803800	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:112802800-112803800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:112802800-112804000	Enhancers	Brain Anterior Caudate	brain
22	chr1:112802800-112804200	Enhancers	Brain Hippocampus Middle	brain
23	chr1:112802800-112806800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:112803000-112803600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:112803000-112803600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:112803000-112803600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:112803000-112804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:112803000-112804400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:112803200-112804000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:112803200-112804000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:112803200-112806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:112803400-112806800	Weak transcription	Brain Angular Gyrus	brain
33	chr1:112803400-112808200	Enhancers	HSMMtube	muscle
34	chr1:112803600-112805000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:112803800-112806600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:112803800-112806600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:112804000-112805000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:112804000-112807000	Weak transcription	Brain Anterior Caudate	brain
39	chr1:112804200-112806600	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:112804200-112806600	Weak transcription	Brain Substantia Nigra	brain
41	chr1:112804800-112807200	Enhancers	Right Atrium	heart
42	chr1:112805000-112805400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:112805000-112805400	Enhancers	Brain Germinal Matrix	brain
44	chr1:112805000-112805800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:112805000-112808200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:112805000-112808400	Enhancers	Fetal Muscle Leg	muscle
47	chr1:112805000-112808600	Enhancers	Fetal Stomach	stomach
48	chr1:112805200-112807400	Enhancers	HSMM	muscle
49	chr1:112805600-112806400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:112805600-112807000	Enhancers	Duodenum Smooth Muscle	Duodenum

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