Variant report

Variant	esv1809115
Chromosome Location	chr7:118133379-118160327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
2	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
3	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
4	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs39479	chr7:118133385-118133386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576344689	chr7:118133426-118133427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529873736	chr7:118133447-118133448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181277265	chr7:118133459-118133460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550002272	chr7:118133472-118133473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532959029	chr7:118133499-118133500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561684328	chr7:118133523-118133524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528993153	chr7:118133616-118133617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186324389	chr7:118133617-118133618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190832813	chr7:118133652-118133653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532743086	chr7:118133660-118133661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs39480	chr7:118133775-118133776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564433473	chr7:118133787-118133788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114371121	chr7:118133792-118133793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550355628	chr7:118133793-118133794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564616888	chr7:118142019-118142020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185553345	chr7:118142045-118142046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376823016	chr7:118142074-118142075	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543661403	chr7:118142087-118142088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562271156	chr7:118142089-118142090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529424633	chr7:118142099-118142100	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs143040343	chr7:118142124-118142125	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148211288	chr7:118142252-118142253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532111215	chr7:118142293-118142294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533352348	chr7:118142339-118142340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551698523	chr7:118142343-118142344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141647558	chr7:118142413-118142414	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146229908	chr7:118142457-118142458	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555288601	chr7:118142470-118142471	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567093624	chr7:118142503-118142504	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547198574	chr7:118142504-118142505	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534438852	chr7:118142515-118142516	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73209391	chr7:118142537-118142538	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115187681	chr7:118142540-118142541	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544602230	chr7:118142570-118142571	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79710215	chr7:118142584-118142585	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576675831	chr7:118142589-118142590	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189920938	chr7:118142603-118142604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182176156	chr7:118142616-118142617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529489207	chr7:118142617-118142618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188904764	chr7:118142644-118142645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74741606	chr7:118142674-118142675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559881138	chr7:118142675-118142676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376958750	chr7:118142709-118142710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573401350	chr7:118142790-118142791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115746722	chr7:118142791-118142792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142483216	chr7:118150600-118150601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79640694	chr7:118150601-118150602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573290876	chr7:118150682-118150683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75189456	chr7:118150739-118150740	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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118132600-118133800	Enhancers	Fetal Brain Male	brain
2	chr7:118142000-118142200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:118142200-118142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:118142400-118142600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:118142400-118142800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:118150600-118151000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:118151000-118151400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:118151000-118151600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:118151000-118151600	Enhancers	Brain Hippocampus Middle	brain
10	chr7:118151600-118152600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:118156000-118158000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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