Variant report

Variant	esv1796198
Chromosome Location	chr7:84086924-84097423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 374 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:374 , 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	rs16887713	chr7:84086924-84086925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563202750	chr7:84086934-84086935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565064443	chr7:84086972-84086973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530859289	chr7:84086975-84086976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375334029	chr7:84086982-84086983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185395522	chr7:84087089-84087090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567453947	chr7:84087179-84087180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528564023	chr7:84087187-84087188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7810450	chr7:84087254-84087255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571823914	chr7:84087274-84087275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192143622	chr7:84087283-84087284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184012894	chr7:84087345-84087346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188652050	chr7:84087349-84087350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537086124	chr7:84087377-84087378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555389825	chr7:84087395-84087396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573812369	chr7:84087399-84087400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374534012	chr7:84087447-84087448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541143596	chr7:84087547-84087548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552759806	chr7:84087571-84087572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116814933	chr7:84087586-84087587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544830797	chr7:84087606-84087607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560953443	chr7:84087611-84087612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373622427	chr7:84087619-84087620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148530998	chr7:84087698-84087699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575176816	chr7:84087714-84087715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368769813	chr7:84087721-84087722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542639689	chr7:84087756-84087757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35989680	chr7:84087766-84087767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397791133	chr7:84087772-84087773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549728225	chr7:84087797-84087798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78568673	chr7:84087857-84087858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191753182	chr7:84087860-84087861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547078499	chr7:84087925-84087926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183713250	chr7:84087932-84087933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532786744	chr7:84087950-84087951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569482118	chr7:84087959-84087960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2527537	chr7:84087962-84087963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551603158	chr7:84087991-84087992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79957367	chr7:84088024-84088025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186846283	chr7:84088055-84088056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2706902	chr7:84088111-84088112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200634127	chr7:84088243-84088244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567270189	chr7:84088281-84088282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534282744	chr7:84088286-84088287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191783258	chr7:84088378-84088379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183514454	chr7:84088437-84088438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577654585	chr7:84088459-84088460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538859915	chr7:84088590-84088591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556715140	chr7:84088616-84088617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369476564	chr7:84088658-84088659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84085400-84093600	Weak transcription	NHDF-Ad	bronchial
2	chr7:84090000-84091200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:84090400-84090600	Enhancers	Fetal Brain Female	brain
4	chr7:84090600-84091200	Weak transcription	Fetal Brain Female	brain
5	chr7:84091000-84092000	Enhancers	Fetal Brain Male	brain
6	chr7:84091200-84092000	Enhancers	Fetal Brain Female	brain
7	chr7:84091600-84092200	Enhancers	Fetal Stomach	stomach
8	chr7:84093600-84096400	Strong transcription	NHDF-Ad	bronchial
9	chr7:84094400-84101600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:84095600-84100000	Weak transcription	Adipose Nuclei	Adipose
11	chr7:84096000-84097600	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:84096400-84098400	Weak transcription	NHDF-Ad	bronchial

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