Variant report

Variant	esv3333758
Chromosome Location	chr7:85088866-85091064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567477948	chr7:85088939-85088940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375896223	chr7:85088945-85088946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185793626	chr7:85088946-85088947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528398697	chr7:85088963-85088964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528968949	chr7:85089015-85089016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547058767	chr7:85089033-85089034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191331756	chr7:85089046-85089047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146140092	chr7:85089055-85089056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376922129	chr7:85089086-85089087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558082017	chr7:85089148-85089149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569857764	chr7:85089207-85089208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537312077	chr7:85089232-85089233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79793300	chr7:85089261-85089262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573853430	chr7:85089272-85089273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541567360	chr7:85089341-85089342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533761992	chr7:85089372-85089373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532415538	chr7:85089380-85089381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553489406	chr7:85089389-85089390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578100237	chr7:85089439-85089440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545069524	chr7:85089464-85089465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563653194	chr7:85089483-85089484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575856900	chr7:85089512-85089513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56919851	chr7:85089561-85089562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144644404	chr7:85089566-85089567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200677999	chr7:85089568-85089569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201318351	chr7:85089580-85089581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58903317	chr7:85089583-85089584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10278635	chr7:85089584-85089585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10263040	chr7:85089586-85089587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76142236	chr7:85089588-85089589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10233317	chr7:85089592-85089593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10262853	chr7:85089599-85089600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10263043	chr7:85089600-85089601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80340012	chr7:85089609-85089610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71539325	chr7:85089610-85089611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71085013	chr7:85089619-85089620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs68150966	chr7:85089620-85089621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57633395	chr7:85089623-85089624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74387346	chr7:85089627-85089628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13244152	chr7:85089629-85089630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112476509	chr7:85089634-85089635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367609479	chr7:85089639-85089640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13229675	chr7:85089640-85089641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55795924	chr7:85089647-85089648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60843654	chr7:85089648-85089649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560999997	chr7:85089656-85089657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370486718	chr7:85089657-85089658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13229981	chr7:85089658-85089659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376118522	chr7:85089668-85089669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181139348	chr7:85089671-85089672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85082400-85090800	Weak transcription	Fetal Stomach	stomach
2	chr7:85090800-85092000	Enhancers	Fetal Lung	lung
3	chr7:85090800-85092000	Enhancers	Fetal Stomach	stomach

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