Variant report

Variant	esv2829877
Chromosome Location	chr7:83445678-83459908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83456371..83458031-chr7:83460982..83463180,2	K562	blood:
2	chr7:83456371..83459960-chr7:83460800..83464283,4	K562	blood:

Extended variants
information (count: 295 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545794172	chr7:83446437-83446438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75505909	chr7:83446448-83446449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531423752	chr7:83446523-83446524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543184456	chr7:83446536-83446537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574906677	chr7:83446548-83446549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142503703	chr7:83446555-83446556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543907663	chr7:83446567-83446568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563395760	chr7:83446733-83446734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547253445	chr7:83446767-83446768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148148767	chr7:83446883-83446884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116622093	chr7:83446895-83446896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373687472	chr7:83447089-83447090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551750191	chr7:83447183-83447184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569993165	chr7:83447189-83447190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537537227	chr7:83447191-83447192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79975838	chr7:83447261-83447262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567835174	chr7:83447306-83447307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535249578	chr7:83447325-83447326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141979428	chr7:83447397-83447398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578193444	chr7:83447403-83447404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189051187	chr7:83447432-83447433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557717570	chr7:83447436-83447437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113669990	chr7:83447450-83447451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145990253	chr7:83447500-83447501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140668562	chr7:83447538-83447539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561461674	chr7:83447584-83447585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573460026	chr7:83447587-83447588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532468260	chr7:83447589-83447590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117178780	chr7:83447633-83447634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559170892	chr7:83447634-83447635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533247879	chr7:83447677-83447678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7787602	chr7:83447703-83447704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563679352	chr7:83447706-83447707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528400001	chr7:83447739-83447740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181723766	chr7:83447782-83447783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550541046	chr7:83450400-83450401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188101119	chr7:83450454-83450455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191595706	chr7:83450456-83450457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184866784	chr7:83450486-83450487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73388499	chr7:83450487-83450488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550311451	chr7:83450489-83450490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570643777	chr7:83450500-83450501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200283925	chr7:83450538-83450539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550361311	chr7:83450549-83450550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568975579	chr7:83450583-83450584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577001586	chr7:83450631-83450632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536398281	chr7:83450640-83450641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76312273	chr7:83450644-83450645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562885324	chr7:83450712-83450713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372204365	chr7:83450774-83450775	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83446400-83447800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:83450400-83451600	Enhancers	Stomach Mucosa	stomach
3	chr7:83450600-83451600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:83452800-83454400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:83453200-83454600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:83453200-83454600	Enhancers	HUVEC	blood vessel
7	chr7:83453200-83454800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:83453400-83453600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:83453800-83454200	Enhancers	NH-A	brain
10	chr7:83454600-83456200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:83454800-83456200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:83455600-83457400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:83456200-83457000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:83456200-83457000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:83456400-83457000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:83456400-83457000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:83459000-83459200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:83459000-83459200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:83459200-83459400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:83459200-83460200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:83459200-83460200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:83459400-83460200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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