Variant report

Variant	esv11306
Chromosome Location	chr7:48587610-48588210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145070972	chr7:48587611-48587612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189039895	chr7:48587612-48587613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6972202	chr7:48587625-48587626	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6946527	chr7:48587628-48587629	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs28367235	chr7:48587714-48587715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6980069	chr7:48587716-48587717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114036347	chr7:48587745-48587746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138813080	chr7:48587773-48587774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541509407	chr7:48587778-48587779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370066387	chr7:48587786-48587787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs68007434	chr7:48587825-48587826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574732826	chr7:48587856-48587857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191606712	chr7:48587874-48587875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376242897	chr7:48587875-48587876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4449736	chr7:48587895-48587896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1534393	chr7:48587910-48587911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73109355	chr7:48587911-48587912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552386540	chr7:48587921-48587922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559875369	chr7:48587996-48587997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs68084496	chr7:48588088-48588089	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547460949	chr7:48588090-48588091	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377187936	chr7:48588105-48588106	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184032023	chr7:48588134-48588135	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs66956570	chr7:48588138-48588139	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73109360	chr7:48588142-48588143	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569935400	chr7:48588145-48588146	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35317081	chr7:48588154-48588155	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398038177	chr7:48588158-48588159	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79573080	chr7:48588159-48588160	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73109362	chr7:48588164-48588165	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117686946	chr7:48588176-48588177	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386713006	chr7:48588194-48588195	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73109364	chr7:48588196-48588197	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554998881	chr7:48588201-48588202	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48587200-48588000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48587400-48588200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:48588000-48589200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:48588200-48588600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:48588200-48588800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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