Variant report

Variant	esv3381684
Chromosome Location	chr7:80220716-80222664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144209100	chr7:80220741-80220742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140184116	chr7:80220767-80220768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551631948	chr7:80220768-80220769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369912160	chr7:80220806-80220807	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147706134	chr7:80220885-80220886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs192234430	chr7:80220892-80220893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552961497	chr7:80220895-80220896	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs80258067	chr7:80220953-80220954	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535965313	chr7:80220976-80220977	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs180941177	chr7:80221007-80221008	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs117862942	chr7:80221043-80221044	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544504652	chr7:80221047-80221048	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs113565389	chr7:80221060-80221061	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376777423	chr7:80221064-80221065	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185979015	chr7:80221109-80221110	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs199689806	chr7:80221149-80221150	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2308085	chr7:80221150-80221151	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370693672	chr7:80221151-80221152	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs146435240	chr7:80221161-80221162	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113173032	chr7:80221250-80221251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528107415	chr7:80221295-80221296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142297841	chr7:80221433-80221434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13311100	chr7:80221454-80221455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71780995	chr7:80221480-80221481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10234221	chr7:80221511-80221512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28368575	chr7:80221518-80221519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10252616	chr7:80221523-80221524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs28547410	chr7:80221525-80221526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542693103	chr7:80221526-80221527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28666578	chr7:80221527-80221528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71835930	chr7:80221528-80221529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28569850	chr7:80221533-80221534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28556720	chr7:80221535-80221536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546941110	chr7:80221662-80221663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139722430	chr7:80221696-80221697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34892002	chr7:80221725-80221726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536005483	chr7:80221742-80221743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182531392	chr7:80221767-80221768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185672470	chr7:80221830-80221831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190822936	chr7:80221836-80221837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554727106	chr7:80221882-80221883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527586411	chr7:80221936-80221937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182958238	chr7:80221937-80221938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113265631	chr7:80221950-80221951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535512325	chr7:80221978-80221979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1194203	chr7:80221996-80221997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569299742	chr7:80222008-80222009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142910464	chr7:80222053-80222054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150962941	chr7:80222074-80222075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578237982	chr7:80222081-80222082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Williams Syndrome	20824207	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
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80211000-80223200	Weak transcription	Left Ventricle	heart
2	chr7:80212600-80226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:80213600-80223600	Weak transcription	Psoas Muscle	Psoas
4	chr7:80214800-80223200	Weak transcription	Pancreas	Pancrea
5	chr7:80217400-80221000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:80218400-80223000	Weak transcription	A549	lung
7	chr7:80218400-80223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:80219000-80223200	Weak transcription	Adipose Nuclei	Adipose
9	chr7:80219400-80223200	Weak transcription	Fetal Heart	heart
10	chr7:80219400-80226400	Weak transcription	Fetal Lung	lung
11	chr7:80219400-80229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:80219800-80220800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:80220600-80220800	Enhancers	Fetal Intestine Large	intestine
14	chr7:80220600-80220800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr7:80220600-80221200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:80220600-80221200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:80220800-80221000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:80220800-80221000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:80220800-80221200	Enhancers	GM12878-XiMat	blood
20	chr7:80221000-80221200	Active TSS	Monocytes-CD14+_RO01746	blood

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