Variant report

Variant	esv3501478
Chromosome Location	chr4:7685009-7685119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	rs368009334	chr4:7685011-7685012	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35867554	chr4:7685031-7685032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547183781	chr4:7685034-7685035	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34171648	chr4:7685041-7685042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116118458	chr4:7685044-7685045	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4689824	chr4:7685067-7685068	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9997576	chr4:7685074-7685075	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547927551	chr4:7685075-7685076	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566180299	chr4:7685078-7685079	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78012306	chr4:7685086-7685087	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56997863	chr4:7685091-7685092	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10019402	chr4:7685105-7685106	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548697727	chr4:7685106-7685107	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10011612	chr4:7685107-7685108	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7665200-7694800	Weak transcription	Liver	Liver
2	chr4:7679200-7695000	Weak transcription	Fetal Brain Male	brain
3	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
4	chr4:7681000-7686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:7681200-7685400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:7683000-7686000	ZNF genes & repeats	Fetal Stomach	stomach
7	chr4:7683200-7691600	Weak transcription	Fetal Kidney	kidney
8	chr4:7683200-7695200	Weak transcription	Fetal Brain Female	brain
9	chr4:7684000-7686000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
10	chr4:7684000-7686200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
11	chr4:7684000-7686400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr4:7684200-7685800	ZNF genes & repeats	Brain Substantia Nigra	brain
13	chr4:7684200-7686000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:7684200-7686000	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr4:7684200-7686000	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr4:7684400-7685200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
17	chr4:7684400-7685600	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr4:7684400-7686200	Strong transcription	Brain Angular Gyrus	brain
19	chr4:7684600-7685400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:7684600-7685800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr4:7684600-7686000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:7684600-7686000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr4:7684800-7685600	ZNF genes & repeats	Fetal Intestine Small	intestine

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