Variant report

Variant	esv3477210
Chromosome Location	chr7:48391568-48402044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 387 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529559440	chr7:48391568-48391569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560849134	chr7:48391575-48391576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139386740	chr7:48391583-48391584	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546153970	chr7:48391604-48391605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4145714	chr7:48391642-48391643	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561423045	chr7:48391669-48391670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375544741	chr7:48391682-48391683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530551936	chr7:48391712-48391713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189922042	chr7:48391727-48391728	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550149694	chr7:48391735-48391736	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557192896	chr7:48391755-48391756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570157293	chr7:48391764-48391765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369958763	chr7:48391768-48391769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201772699	chr7:48391821-48391822	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373024545	chr7:48391835-48391836	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs199919712	chr7:48391844-48391845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376643039	chr7:48391861-48391862	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369135279	chr7:48391862-48391863	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372937831	chr7:48391880-48391881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200761560	chr7:48391885-48391886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566783688	chr7:48391886-48391887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377328710	chr7:48391911-48391912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370917914	chr7:48391923-48391924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373657967	chr7:48391929-48391930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376331882	chr7:48391935-48391936	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371083548	chr7:48391973-48391974	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150067467	chr7:48391983-48391984	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs367810264	chr7:48391988-48391989	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530254670	chr7:48392001-48392002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370669847	chr7:48392011-48392012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569366797	chr7:48392027-48392028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374129283	chr7:48392054-48392055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs538389782	chr7:48392065-48392066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs368428844	chr7:48392079-48392080	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558287023	chr7:48392093-48392094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77901701	chr7:48392110-48392111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs376497539	chr7:48392124-48392125	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540638016	chr7:48392140-48392141	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554142502	chr7:48392160-48392161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551002195	chr7:48392200-48392201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs542836760	chr7:48392207-48392208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562781571	chr7:48392220-48392221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140903744	chr7:48392221-48392222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543856046	chr7:48392226-48392227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181190767	chr7:48392229-48392230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371572681	chr7:48392247-48392248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371855262	chr7:48392289-48392290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568898156	chr7:48392308-48392309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144852128	chr7:48392319-48392320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373184325	chr7:48392321-48392322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48378800-48392800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:48384400-48392600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:48388800-48391600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:48389400-48393000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:48390200-48392200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:48390800-48392600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:48391600-48392000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:48392000-48392600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:48392200-48392800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:48392600-48392800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:48392600-48393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:48392600-48395400	Strong transcription	Primary hematopoietic stem cells	blood
13	chr7:48392800-48393000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:48392800-48400600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:48393000-48393800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:48393400-48395000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:48394600-48394800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:48395400-48406400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:48398600-48399000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:48399000-48399200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:48400600-48403000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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