Variant report

Variant	esv3447110
Chromosome Location	chr7:79019316-79022414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:79017286..79019685-chr7:79023052..79025297,2	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145168491	chr7:79019345-79019346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376227068	chr7:79019408-79019409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150961563	chr7:79019441-79019442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140676041	chr7:79019522-79019523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149667054	chr7:79019595-79019596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189024282	chr7:79019727-79019728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538335205	chr7:79019728-79019729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10228881	chr7:79019744-79019745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10231862	chr7:79019765-79019766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575648744	chr7:79019768-79019769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543263945	chr7:79019821-79019822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563111680	chr7:79019910-79019911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181735074	chr7:79019919-79019920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576751555	chr7:79019922-79019923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578196114	chr7:79019923-79019924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540832457	chr7:79019947-79019948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545721223	chr7:79019956-79019957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145595763	chr7:79019982-79019983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528116815	chr7:79019990-79019991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560727175	chr7:79020013-79020014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10275975	chr7:79020029-79020030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530585761	chr7:79020030-79020031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140446288	chr7:79020033-79020034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200422918	chr7:79020042-79020043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533541126	chr7:79020043-79020044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186303573	chr7:79020060-79020061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113579608	chr7:79020079-79020080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369937193	chr7:79020091-79020092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190753960	chr7:79020097-79020098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181085065	chr7:79020115-79020116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77669208	chr7:79020149-79020150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186275489	chr7:79020155-79020156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562715735	chr7:79020194-79020195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537923887	chr7:79020227-79020228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191568991	chr7:79020229-79020230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370601619	chr7:79020244-79020245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373258617	chr7:79020251-79020252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62458988	chr7:79020342-79020343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553040143	chr7:79020428-79020429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73706424	chr7:79020430-79020431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115375069	chr7:79020435-79020436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561689859	chr7:79020436-79020437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530541285	chr7:79020527-79020528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544349754	chr7:79020539-79020540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182722342	chr7:79020572-79020573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13232141	chr7:79020616-79020617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551426116	chr7:79020628-79020629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533605886	chr7:79020634-79020635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547211721	chr7:79020680-79020681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76336659	chr7:79020758-79020759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Cancer	20164920	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79017600-79030400	Weak transcription	Brain Substantia Nigra	brain

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