Variant report

Variant	esv3344651
Chromosome Location	chr7:47918752-47921125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs62447070	chr7:47918844-47918845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6958737	chr7:47918889-47918890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544017506	chr7:47918895-47918896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12534916	chr7:47918917-47918918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187161532	chr7:47918929-47918930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111343799	chr7:47918961-47918962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113588206	chr7:47918965-47918966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113072546	chr7:47918979-47918980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78240357	chr7:47918984-47918985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189654171	chr7:47918991-47918992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77577916	chr7:47918992-47918993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556360045	chr7:47919003-47919004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62447071	chr7:47919007-47919008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180861844	chr7:47919016-47919017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372972461	chr7:47919028-47919029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528697836	chr7:47919049-47919050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62447072	chr7:47919088-47919089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62447073	chr7:47919091-47919092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377189186	chr7:47919106-47919107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62447074	chr7:47919109-47919110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386712934	chr7:47919162-47919163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62447076	chr7:47919163-47919164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561805238	chr7:47919169-47919170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544584353	chr7:47919178-47919179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10249428	chr7:47919214-47919215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190300526	chr7:47919225-47919226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375266119	chr7:47919226-47919227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10249208	chr7:47919228-47919229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113617779	chr7:47919254-47919255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57671564	chr7:47919258-47919259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547387998	chr7:47919267-47919268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368206397	chr7:47919270-47919271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60188859	chr7:47919303-47919304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs57503513	chr7:47919307-47919308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs58725055	chr7:47919359-47919360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549902237	chr7:47919375-47919376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386712935	chr7:47919400-47919401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56745469	chr7:47919405-47919406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552356029	chr7:47919429-47919430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565988459	chr7:47919439-47919440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574865987	chr7:47919448-47919449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59221678	chr7:47919455-47919456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59781135	chr7:47919463-47919464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59403455	chr7:47919470-47919471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60086518	chr7:47919472-47919473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557025484	chr7:47919478-47919479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61267365	chr7:47919486-47919487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576884135	chr7:47919530-47919531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57098310	chr7:47919533-47919534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61243087	chr7:47919535-47919536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47903200-47922400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:47903200-47923800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:47903400-47945000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:47906200-47923000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:47913600-47929600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:47916400-47949000	Weak transcription	Right Ventricle	heart
7	chr7:47918000-47918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:47918000-47918800	Enhancers	Fetal Heart	heart
9	chr7:47918200-47918800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:47918200-47918800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:47918200-47935200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:47918400-47918800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:47918400-47926600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:47918400-47926800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:47918600-47918800	Genic enhancers	Left Ventricle	heart
16	chr7:47918600-47922400	Weak transcription	Right Atrium	heart
17	chr7:47918800-47919600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:47918800-47920400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:47918800-47922400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:47918800-47922400	Weak transcription	Left Ventricle	heart
21	chr7:47918800-47922600	Weak transcription	Fetal Heart	heart
22	chr7:47919600-47919800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:47920400-47920600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:47920400-47921000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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