Variant report

Variant	esv3337012
Chromosome Location	chr4:187469414-187470387
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	chr4:187468016..187470329-chr4:187475852..187477420,2	MCF-7	breast:
2	chr4:187464736..187466287-chr4:187469928..187471897,2	K562	blood:

Variant related genes	Relation type
ENSG00000272297	chromatin interactions
ENSG00000168412	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73024717	chr4:187469453-187469454	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368399553	chr4:187469465-187469466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544209541	chr4:187469500-187469501	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112667312	chr4:187469537-187469538	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141854298	chr4:187469570-187469571	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555457654	chr4:187469665-187469666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376790375	chr4:187469775-187469776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs78664860	chr4:187469811-187469812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73024720	chr4:187469847-187469848	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565839806	chr4:187469896-187469897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112420886	chr4:187469904-187469905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375527413	chr4:187469927-187469928	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113283766	chr4:187469942-187469943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs71595106	chr4:187469964-187469965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199843641	chr4:187469979-187469980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201898058	chr4:187469983-187469984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534869436	chr4:187469995-187469996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373795210	chr4:187469997-187469998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs55857192	chr4:187470001-187470002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10434308	chr4:187470002-187470003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551579937	chr4:187470027-187470028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576125112	chr4:187470101-187470102	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs564105908	chr4:187470120-187470121	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189070554	chr4:187470174-187470175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112633920	chr4:187470204-187470205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369705486	chr4:187470273-187470274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546569363	chr4:187470282-187470283	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73024722	chr4:187470326-187470327	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567247818	chr4:187470331-187470332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6841776	chr4:187470361-187470362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200276966	chr4:187470373-187470374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201192996	chr4:187470374-187470375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200147514	chr4:187470375-187470376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10434256	chr4:187470376-187470377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201700945	chr4:187470377-187470378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76036229	chr4:187470380-187470381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Ependymoma	20639864	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187466200-187470400	Weak transcription	Right Atrium	heart
2	chr4:187468800-187474800	Weak transcription	Pancreas	Pancrea
3	chr4:187468800-187475000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:187468800-187475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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