Variant report

Variant	esv3347764
Chromosome Location	chr4:7682443-7682924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552550720	chr4:7682443-7682444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189155053	chr4:7682451-7682452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147085508	chr4:7682476-7682477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138291113	chr4:7682482-7682483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75145136	chr4:7682483-7682484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10027023	chr4:7682485-7682486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371611629	chr4:7682526-7682527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575283141	chr4:7682532-7682533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73202600	chr4:7682587-7682588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558062711	chr4:7682609-7682610	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143931692	chr4:7682653-7682654	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115099750	chr4:7682668-7682669	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79654416	chr4:7682734-7682735	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371492786	chr4:7682814-7682815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541984741	chr4:7682849-7682850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563268456	chr4:7682886-7682887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563081206	chr4:7682892-7682893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35348845	chr4:7682895-7682896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113940049	chr4:7682910-7682911	Weak transcription Enhancers	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7660600-7684400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:7661600-7684200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:7665200-7694800	Weak transcription	Liver	Liver
4	chr4:7669800-7684200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:7670400-7684400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7673600-7684000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:7677200-7684400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:7679200-7695000	Weak transcription	Fetal Brain Male	brain
9	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
10	chr4:7680400-7683000	Weak transcription	Fetal Stomach	stomach
11	chr4:7681000-7686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:7681200-7685400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:7682200-7683000	Enhancers	HepG2	liver
14	chr4:7682200-7684600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:7682600-7682800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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