Variant report

Variant	esv3374581
Chromosome Location	chr4:7524648-7524888
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	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:
2	chr4:7524845..7525381-chr4:7721481..7722229,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62637860	chr4:7524648-7524649	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62637861	chr4:7524654-7524655	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs62637862	chr4:7524658-7524659	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs62637863	chr4:7524659-7524660	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62280193	chr4:7524667-7524668	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186200396	chr4:7524692-7524693	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576025461	chr4:7524697-7524698	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149050416	chr4:7524807-7524808	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs6857623	chr4:7524810-7524811	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs371188505	chr4:7524811-7524812	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs140901081	chr4:7524812-7524813	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs147429318	chr4:7524816-7524817	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs373924314	chr4:7524817-7524818	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs376810964	chr4:7524831-7524832	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7520200-7525400	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr4:7521000-7527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:7523600-7524800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7523800-7525800	Enhancers	Brain Germinal Matrix	brain
5	chr4:7524000-7525200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:7524200-7524800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:7524200-7525000	Bivalent Enhancer	Fetal Brain Female	brain
8	chr4:7524400-7524800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
9	chr4:7524600-7525200	Bivalent Enhancer	Fetal Brain Male	brain
10	chr4:7524800-7525000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:7524800-7525000	Bivalent Enhancer	Fetal Stomach	stomach
12	chr4:7524800-7527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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