Variant report

Variant	esv2421728
Chromosome Location	chr7:86234184-86245054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1116665	chr7:86234213-86234214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs781024	chr7:86234230-86234231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs781025	chr7:86234246-86234247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138568316	chr7:86234293-86234294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116177609	chr7:86234301-86234302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554950401	chr7:86234324-86234325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115079617	chr7:86234381-86234382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535028361	chr7:86234387-86234388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141350518	chr7:86234396-86234397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578150009	chr7:86234407-86234408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181354042	chr7:86234435-86234436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149560354	chr7:86234486-86234487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3055121	chr7:86234498-86234499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199583270	chr7:86234499-86234500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557397309	chr7:86234500-86234501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62488406	chr7:86234501-86234502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201172595	chr7:86234509-86234510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543035458	chr7:86234510-86234511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377587326	chr7:86234511-86234512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561313579	chr7:86234602-86234603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114721523	chr7:86234605-86234606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553745191	chr7:86234698-86234699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111446090	chr7:86234702-86234703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35847566	chr7:86234718-86234719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2204638	chr7:86234727-86234728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201341724	chr7:86234729-86234730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559406811	chr7:86234740-86234741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112994937	chr7:86234770-86234771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186172699	chr7:86234792-86234793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150234154	chr7:86234794-86234795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563353589	chr7:86234814-86234815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530557982	chr7:86234816-86234817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548563824	chr7:86234844-86234845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571081039	chr7:86234848-86234849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199651948	chr7:86234867-86234868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77589256	chr7:86234878-86234879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114596370	chr7:86234886-86234887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138885875	chr7:86234887-86234888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115907687	chr7:86234901-86234902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571868627	chr7:86234911-86234912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs781026	chr7:86234920-86234921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557313590	chr7:86234956-86234957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189487169	chr7:86234993-86234994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86231000-86235000	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links