Variant report

Variant	nsv970416
Chromosome Location	chr7:87407303-87419070
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	chr7:87413764..87415269-chr7:87503904..87505851,2	K562	blood:
2	chr7:87413447..87414027-chr7:87740900..87741405,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075303	chromatin interactions
ENSG00000006634	chromatin interactions

Extended variants
information (count: 327 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192070037	chr7:87407330-87407331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113866908	chr7:87407348-87407349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114024377	chr7:87407372-87407373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184617895	chr7:87407381-87407382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2285649	chr7:87407431-87407432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535806885	chr7:87407465-87407466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530156060	chr7:87407501-87407502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548241311	chr7:87407507-87407508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2285648	chr7:87407521-87407522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148885576	chr7:87407600-87407601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552492553	chr7:87407635-87407636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55843951	chr7:87407706-87407707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371861359	chr7:87407715-87407716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547587211	chr7:87407720-87407721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573816327	chr7:87407757-87407758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76297847	chr7:87407770-87407771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538113342	chr7:87407772-87407773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115143318	chr7:87407781-87407782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369683992	chr7:87409299-87409300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565513454	chr7:87409341-87409342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576636657	chr7:87409369-87409370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551220866	chr7:87409391-87409392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138661152	chr7:87409407-87409408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141119985	chr7:87409458-87409459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111302167	chr7:87409525-87409526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146966889	chr7:87409612-87409613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184125609	chr7:87409688-87409689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554157835	chr7:87409706-87409707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9986978	chr7:87409744-87409745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200750323	chr7:87409766-87409767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546159291	chr7:87409801-87409802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137992999	chr7:87409892-87409893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564319106	chr7:87409922-87409923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529008121	chr7:87410092-87410093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189449352	chr7:87410146-87410147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544042326	chr7:87410199-87410200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181036432	chr7:87410227-87410228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149477323	chr7:87410238-87410239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143774360	chr7:87410247-87410248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148129518	chr7:87410272-87410273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572085805	chr7:87410330-87410331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532815788	chr7:87410346-87410347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551352162	chr7:87410438-87410439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184826664	chr7:87410463-87410464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530481882	chr7:87410535-87410536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548766644	chr7:87410550-87410551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567093209	chr7:87410565-87410566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188666884	chr7:87410608-87410609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181451022	chr7:87410617-87410618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571517278	chr7:87410630-87410631	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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myxofibrosarcoma	20639860	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87406000-87407800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:87409200-87419400	Weak transcription	Left Ventricle	heart

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