Variant report

Variant	esv3391887
Chromosome Location	chr7:83981416-83987514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192675997	chr7:83981416-83981417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533571813	chr7:83981458-83981459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184176314	chr7:83981523-83981524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs642572	chr7:83981525-83981526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189459380	chr7:83981541-83981542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77261431	chr7:83981559-83981560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371742651	chr7:83981590-83981591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144154488	chr7:83981606-83981607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs642153	chr7:83981616-83981617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs5885410	chr7:83981686-83981687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398039768	chr7:83981691-83981692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560472427	chr7:83981694-83981695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371864392	chr7:83981734-83981735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114836376	chr7:83981744-83981745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144228217	chr7:83981750-83981751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73189050	chr7:83981754-83981755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5885411	chr7:83981795-83981796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564430056	chr7:83981803-83981804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531837701	chr7:83981827-83981828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192371181	chr7:83981832-83981833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568657498	chr7:83981927-83981928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368273785	chr7:83981962-83981963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372020655	chr7:83981994-83981995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185068861	chr7:83981995-83981996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13233965	chr7:83982147-83982148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs612774	chr7:83982186-83982187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552429954	chr7:83982276-83982277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs612337	chr7:83982295-83982296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189051479	chr7:83982296-83982297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181685788	chr7:83982307-83982308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs611954	chr7:83982343-83982344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574452252	chr7:83982360-83982361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs611855	chr7:83982415-83982416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186439998	chr7:83982427-83982428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34032692	chr7:83982434-83982435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553997472	chr7:83982468-83982469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572379059	chr7:83982549-83982550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546070562	chr7:83982568-83982569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564496896	chr7:83982583-83982584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59356849	chr7:83982651-83982652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147789437	chr7:83982660-83982661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543786865	chr7:83982725-83982726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115428684	chr7:83982919-83982920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529386614	chr7:83982929-83982930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547625105	chr7:83983044-83983045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559481985	chr7:83983092-83983093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2189119	chr7:83983117-83983118	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539484976	chr7:83983161-83983162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551622942	chr7:83983162-83983163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79017228	chr7:83983193-83983194	Enhancers 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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83975600-83984600	Weak transcription	NHDF-Ad	bronchial
2	chr7:83983000-83984800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:83984200-83985200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:83984200-83985400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:83984600-83985000	Enhancers	NHDF-Ad	bronchial
6	chr7:83984600-83985400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:83984800-83985000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:83985000-83985400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:83985000-83994200	Weak transcription	NHDF-Ad	bronchial
10	chr7:83985400-83985800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:83985400-83992800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:83985800-83986000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links