Variant report

Variant	esv3444130
Chromosome Location	chr4:8702885-8703345
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	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552120758	chr4:8702885-8702886	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184144163	chr4:8702902-8702903	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188294643	chr4:8702903-8702904	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554045785	chr4:8702919-8702920	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192423359	chr4:8702964-8702965	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184972665	chr4:8702966-8702967	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554831677	chr4:8702985-8702986	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79584345	chr4:8703000-8703001	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374620150	chr4:8703001-8703002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543558259	chr4:8703002-8703003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546143249	chr4:8703013-8703014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28626694	chr4:8703023-8703024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541319771	chr4:8703047-8703048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189598945	chr4:8703053-8703054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530370870	chr4:8703055-8703056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532561860	chr4:8703060-8703061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563558357	chr4:8703061-8703062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530887665	chr4:8703070-8703071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552257783	chr4:8703082-8703083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548426953	chr4:8703090-8703091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570474313	chr4:8703092-8703093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181623038	chr4:8703117-8703118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370230853	chr4:8703118-8703119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187153775	chr4:8703136-8703137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541528693	chr4:8703143-8703144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559637570	chr4:8703145-8703146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28646265	chr4:8703166-8703167	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7669450	chr4:8703172-8703173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537001941	chr4:8703187-8703188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145117503	chr4:8703197-8703198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537095550	chr4:8703217-8703218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6447889	chr4:8703255-8703256	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576904043	chr4:8703256-8703257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575679986	chr4:8703268-8703269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559111507	chr4:8703273-8703274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575059758	chr4:8703276-8703277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542140974	chr4:8703297-8703298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563497022	chr4:8703307-8703308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8701600-8703400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:8702000-8703000	Bivalent Enhancer	Fetal Lung	lung
3	chr4:8702200-8703600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8702600-8703000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
5	chr4:8702800-8703000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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