Variant report

Variant	esv3343523
Chromosome Location	chr4:7257544-7257707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575269109	chr4:7257560-7257561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190930887	chr4:7257563-7257564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545692498	chr4:7257565-7257566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564269017	chr4:7257569-7257570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150939504	chr4:7257572-7257573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71173493	chr4:7257599-7257600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572806024	chr4:7257606-7257607	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs186634345	chr4:7257607-7257608	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs190259707	chr4:7257611-7257612	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs13146426	chr4:7257614-7257615	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs529283444	chr4:7257621-7257622	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs13146431	chr4:7257624-7257625	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs62279423	chr4:7257628-7257629	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs193063246	chr4:7257632-7257633	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs13148072	chr4:7257634-7257635	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs62279424	chr4:7257641-7257642	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62279425	chr4:7257649-7257650	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs187810336	chr4:7257653-7257654	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs192330747	chr4:7257670-7257671	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs78079908	chr4:7257674-7257675	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs143667335	chr4:7257683-7257684	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs75575999	chr4:7257686-7257687	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs527878001	chr4:7257698-7257699	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs149756375	chr4:7257707-7257708	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7252600-7261800	Weak transcription	Fetal Brain Female	brain
2	chr4:7252600-7262400	Weak transcription	Fetal Brain Male	brain
3	chr4:7252800-7257800	Weak transcription	Ovary	ovary
4	chr4:7253000-7265400	Weak transcription	Brain Substantia Nigra	brain
5	chr4:7253400-7258000	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:7253600-7258000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:7253600-7258200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:7253600-7258400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:7253800-7258200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:7254000-7259200	Weak transcription	Spleen	Spleen
11	chr4:7254200-7258200	Enhancers	Fetal Heart	heart
12	chr4:7254600-7258200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:7254800-7258200	Weak transcription	Fetal Lung	lung
14	chr4:7255200-7262800	Weak transcription	Brain Germinal Matrix	brain
15	chr4:7255400-7259000	Enhancers	HSMM	muscle
16	chr4:7255400-7259800	Enhancers	Fetal Muscle Leg	muscle
17	chr4:7255600-7257800	Weak transcription	Right Atrium	heart
18	chr4:7255600-7258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7256200-7257600	Enhancers	Fetal Muscle Trunk	muscle
20	chr4:7256400-7259800	Enhancers	Left Ventricle	heart
21	chr4:7256600-7258400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:7256600-7258600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:7256600-7259600	Enhancers	Right Ventricle	heart
24	chr4:7256600-7259800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:7256800-7259000	Enhancers	HSMMtube	muscle
26	chr4:7257000-7257800	Weak transcription	Lung	lung
27	chr4:7257000-7258200	Enhancers	HMEC	breast
28	chr4:7257000-7258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:7257000-7259200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:7257200-7257600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:7257200-7258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:7257200-7259800	Enhancers	Psoas Muscle	Psoas
33	chr4:7257400-7261200	Weak transcription	Esophagus	oesophagus
34	chr4:7257400-7271000	Weak transcription	Brain Anterior Caudate	brain
35	chr4:7257600-7258000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr4:7257600-7258400	Enhancers	Stomach Smooth Muscle	stomach

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