Variant report

Variant	nsv981516
Chromosome Location	chr7:66627524-66630314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538664789	chr7:66627528-66627529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558483151	chr7:66627532-66627533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569258834	chr7:66627546-66627547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538335881	chr7:66627559-66627560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62464973	chr7:66627589-66627590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146097937	chr7:66627597-66627598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574964197	chr7:66627700-66627701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10243217	chr7:66627718-66627719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs183581596	chr7:66627801-66627802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577577530	chr7:66627904-66627905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188922913	chr7:66627914-66627915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192588460	chr7:66627921-66627922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562456644	chr7:66628002-66628003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374720704	chr7:66628022-66628023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547186966	chr7:66628033-66628034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182102689	chr7:66628094-66628095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35048638	chr7:66628179-66628180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs547155334	chr7:66628256-66628257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs36108108	chr7:66628257-66628258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs533013180	chr7:66628348-66628349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs3864346	chr7:66628350-66628351	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs569227854	chr7:66628392-66628393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2421419	chr7:66628421-66628422	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs141499382	chr7:66628423-66628424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs3864345	chr7:66628440-66628441	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs186756753	chr7:66628456-66628457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534407774	chr7:66628524-66628525	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs576664564	chr7:66628528-66628529	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191604213	chr7:66628603-66628604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577615269	chr7:66628620-66628621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540132248	chr7:66628673-66628674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557804418	chr7:66628687-66628688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184078804	chr7:66628709-66628710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189724327	chr7:66628805-66628806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543688299	chr7:66628813-66628814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575976423	chr7:66628875-66628876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4718463	chr7:66628876-66628877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs193038970	chr7:66628891-66628892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561836933	chr7:66628899-66628900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4717353	chr7:66628925-66628926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs376526255	chr7:66628938-66628939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540831981	chr7:66628940-66628941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563938529	chr7:66628945-66628946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533099661	chr7:66628997-66628998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373194179	chr7:66629007-66629008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550037595	chr7:66629031-66629032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140098495	chr7:66629076-66629077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531749845	chr7:66629091-66629092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28651697	chr7:66629142-66629143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs568547884	chr7:66629154-66629155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66608800-66628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:66608800-66632600	Weak transcription	Ovary	ovary
3	chr7:66612400-66627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:66614200-66628000	Weak transcription	K562	blood
5	chr7:66617200-66628200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:66617200-66628400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:66619400-66627600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:66619600-66628000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:66620600-66631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:66620800-66628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:66621000-66628200	Weak transcription	Thymus	Thymus
12	chr7:66621400-66628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:66621400-66631400	Weak transcription	Adipose Nuclei	Adipose
14	chr7:66621600-66628400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
16	chr7:66621800-66628200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:66623400-66627600	Weak transcription	Fetal Intestine Small	intestine
18	chr7:66625200-66627800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:66626800-66628200	Enhancers	Dnd41	blood
20	chr7:66626800-66629000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:66627400-66628200	Enhancers	Primary T cells from cord blood	blood
22	chr7:66627400-66629400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr7:66627600-66627800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:66627600-66628200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:66627800-66628400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:66627800-66629000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:66628000-66628400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:66628000-66628800	Enhancers	K562	blood
29	chr7:66628000-66629000	Enhancers	GM12878-XiMat	blood
30	chr7:66628200-66628600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr7:66628200-66628600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr7:66628200-66628600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:66628200-66628600	Flanking Active TSS	Dnd41	blood
34	chr7:66628200-66629000	Enhancers	Primary B cells from peripheral blood	blood
35	chr7:66628200-66629000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:66628200-66629000	Enhancers	Thymus	Thymus
37	chr7:66628400-66628600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:66628400-66628600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr7:66628400-66628600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:66628400-66629000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr7:66628400-66629000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:66628400-66629000	Enhancers	Fetal Thymus	thymus
43	chr7:66628600-66629000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:66628600-66629200	Enhancers	Dnd41	blood
45	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:66629000-66650200	Weak transcription	Fetal Thymus	thymus

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