Variant report

Variant	esv3475729
Chromosome Location	chr7:15885450-15885871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568825799	chr7:15885482-15885483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7802377	chr7:15885488-15885489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112029205	chr7:15885526-15885527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560192864	chr7:15885527-15885528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549338013	chr7:15885531-15885532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531570187	chr7:15885534-15885535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59418496	chr7:15885553-15885554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551461593	chr7:15885566-15885567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187383771	chr7:15885672-15885673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548433775	chr7:15885678-15885679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533967717	chr7:15885708-15885709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549053213	chr7:15885709-15885710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567540727	chr7:15885710-15885711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537708148	chr7:15885715-15885716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375800512	chr7:15885776-15885777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192386670	chr7:15885798-15885799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs253590	chr7:15885800-15885801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369972383	chr7:15885832-15885833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536245420	chr7:15885853-15885854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10271730	chr7:15885871-15885872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15879800-15890800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:15884800-15886200	Enhancers	Fetal Lung	lung
3	chr7:15885000-15890400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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