Variant report

Variant	esv3440176
Chromosome Location	chr7:119949038-119949526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 83 )

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	rs189267196	chr7:119949053-119949054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9649422	chr7:119949056-119949057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs34201137	chr7:119949137-119949138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544006617	chr7:119949145-119949146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147332930	chr7:119949163-119949164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11982510	chr7:119949168-119949169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577546249	chr7:119949223-119949224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529931884	chr7:119949235-119949236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114584107	chr7:119949261-119949262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62470532	chr7:119949311-119949312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562910940	chr7:119949368-119949369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528892897	chr7:119949395-119949396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191630996	chr7:119949414-119949415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542314875	chr7:119949493-119949494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375153553	chr7:119949506-119949507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368191051	chr7:119949507-119949508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371569361	chr7:119949522-119949523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375245076	chr7:119949524-119949525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201341926	chr7:119949526-119949527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119939400-119995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:119948600-119949200	Weak transcription	GM12878-XiMat	blood
3	chr7:119948800-119955400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:119949200-119951400	Enhancers	GM12878-XiMat	blood

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