Variant report

Variant	esv3435240
Chromosome Location	chr1:228893029-228897127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228894395..228895925-chr1:228899059..228900768,2	K562	blood:
2	chr1:228889546..228891399-chr1:228891656..228894623,2	K562	blood:
3	chr1:228884431..228886193-chr1:228894753..228897357,2	MCF-7	breast:

Extended variants
information (count: 166 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs565277004	chr1:228893057-228893058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143050805	chr1:228893114-228893115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541943498	chr1:228893194-228893195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561204829	chr1:228893225-228893226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180808915	chr1:228893245-228893246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530622753	chr1:228893251-228893252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550319458	chr1:228893308-228893309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570429029	chr1:228893393-228893394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146136823	chr1:228893556-228893557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573103421	chr1:228893561-228893562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546465982	chr1:228893624-228893625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566890542	chr1:228893636-228893637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140131188	chr1:228893646-228893647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375825321	chr1:228893672-228893673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569210106	chr1:228893685-228893686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538452986	chr1:228893686-228893687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540398629	chr1:228893698-228893699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186447940	chr1:228893712-228893713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371174027	chr1:228893723-228893724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7537983	chr1:228893729-228893730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540957292	chr1:228893737-228893738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143758095	chr1:228893751-228893752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368491243	chr1:228893821-228893822	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs144958813	chr1:228893829-228893830	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs6699462	chr1:228893841-228893842	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561830707	chr1:228893865-228893866	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs115508640	chr1:228893928-228893929	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs148632363	chr1:228893938-228893939	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs536032147	chr1:228893948-228893949	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs114415618	chr1:228893970-228893971	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs190715493	chr1:228893978-228893979	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs142080551	chr1:228893996-228893997	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs566649191	chr1:228894016-228894017	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs181586168	chr1:228894021-228894022	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs549069695	chr1:228894074-228894075	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs569351072	chr1:228894080-228894081	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs186634676	chr1:228894087-228894088	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs551884571	chr1:228894088-228894089	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs571905905	chr1:228894178-228894179	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs10916365	chr1:228894179-228894180	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34900205	chr1:228894205-228894206	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs554497237	chr1:228894264-228894265	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs191746312	chr1:228894281-228894282	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs183138532	chr1:228894336-228894337	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs116341103	chr1:228894395-228894396	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs555034671	chr1:228894419-228894420	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375530794	chr1:228894465-228894466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs188213185	chr1:228894470-228894471	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370576091	chr1:228894507-228894508	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563827562	chr1:228894535-228894536	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
early-passage human iPS cells	21368824	CNVD
Ewing''s sarcoma	19144156	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228883000-228893600	Weak transcription	Liver	Liver
2	chr1:228890000-228894000	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:228890000-228894400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:228891800-228899000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:228892600-228900400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:228893600-228894800	Enhancers	Liver	Liver
7	chr1:228893800-228894600	Bivalent Enhancer	Placenta	Placenta
8	chr1:228894000-228894400	Enhancers	HepG2	liver
9	chr1:228894000-228894600	Enhancers	Adipose Nuclei	Adipose
10	chr1:228894000-228894600	Enhancers	Brain Hippocampus Middle	brain
11	chr1:228894200-228894600	Enhancers	Brain Anterior Caudate	brain
12	chr1:228894400-228894600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
13	chr1:228894400-228894600	Flanking Active TSS	HepG2	liver
14	chr1:228894400-228894800	Enhancers	Brain Substantia Nigra	brain
15	chr1:228894600-228894800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:228894600-228894800	Enhancers	Brain Angular Gyrus	brain
17	chr1:228894600-228895000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:228894600-228897400	Enhancers	HepG2	liver
19	chr1:228894800-228898400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:228895000-228898200	Enhancers	Fetal Intestine Small	intestine
21	chr1:228895000-228898800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:228895200-228895400	Enhancers	Placenta	Placenta
23	chr1:228895200-228897800	Enhancers	Fetal Intestine Large	intestine

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