Variant report

Variant	nsv1015177
Chromosome Location	chr7:78805287-78852533
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	chr7:78218746..78219372-chr7:78805948..78806448,2	MCF-7	breast:

Extended variants
information (count: 1306 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1306 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557479500	chr7:78805349-78805350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577458749	chr7:78805351-78805352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138646511	chr7:78805360-78805361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565048341	chr7:78805425-78805426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34645836	chr7:78805459-78805460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34312107	chr7:78805467-78805468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190615741	chr7:78805476-78805477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541300058	chr7:78805478-78805479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182959276	chr7:78805491-78805492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187614926	chr7:78805495-78805496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549413873	chr7:78805500-78805501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142714714	chr7:78805507-78805508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193100193	chr7:78805518-78805519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75077237	chr7:78805537-78805538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566235417	chr7:78805570-78805571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534933163	chr7:78805585-78805586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150725259	chr7:78805597-78805598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568809246	chr7:78805677-78805678	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs199654494	chr7:78805707-78805708	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139183214	chr7:78805709-78805710	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557343029	chr7:78805745-78805746	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184453885	chr7:78805747-78805748	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs539896100	chr7:78805750-78805751	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs149538154	chr7:78805797-78805798	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79688956	chr7:78805809-78805810	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540911319	chr7:78805924-78805925	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs560847342	chr7:78805932-78805933	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1990434	chr7:78805941-78805942	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561573271	chr7:78805996-78805997	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187735286	chr7:78806038-78806039	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192877417	chr7:78806081-78806082	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs200752505	chr7:78806093-78806094	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562910901	chr7:78806099-78806100	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11978598	chr7:78806100-78806101	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373530222	chr7:78806185-78806186	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552227486	chr7:78806189-78806190	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559215909	chr7:78806194-78806195	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs35645613	chr7:78806200-78806201	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs397745580	chr7:78806201-78806202	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528675009	chr7:78806203-78806204	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548543814	chr7:78806205-78806206	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568672701	chr7:78806287-78806288	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537697115	chr7:78806311-78806312	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs184268361	chr7:78806315-78806316	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570840898	chr7:78806353-78806354	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs367813271	chr7:78806375-78806376	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539486622	chr7:78806392-78806393	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372627016	chr7:78806406-78806407	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201272121	chr7:78806436-78806437	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376228338	chr7:78806449-78806450	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Prostate cancer	18632612	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
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	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

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78804200-78806200	Enhancers	Brain Angular Gyrus	brain
2	chr7:78804800-78805400	Enhancers	Brain Hippocampus Middle	brain
3	chr7:78804800-78805600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:78804800-78805800	Enhancers	Brain Substantia Nigra	brain
5	chr7:78804800-78806200	Enhancers	Brain Cingulate Gyrus	brain
6	chr7:78805000-78806000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:78805400-78805600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:78805600-78806200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:78806000-78806200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:78806000-78806400	Active TSS	Osteobl	bone
12	chr7:78806200-78806400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:78806200-78806400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:78806200-78806400	Enhancers	Fetal Lung	lung
15	chr7:78806200-78806600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:78806200-78807000	Enhancers	Liver	Liver
17	chr7:78806600-78806800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:78806600-78807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:78806800-78807200	Enhancers	Fetal Heart	heart
20	chr7:78808800-78811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:78811200-78812400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:78811200-78812400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:78811400-78812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:78811400-78812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:78811400-78812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:78811400-78812400	Enhancers	NH-A	brain
27	chr7:78811600-78812000	Enhancers	NHEK	skin
28	chr7:78811600-78812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:78811600-78812200	Enhancers	HMEC	breast
30	chr7:78811600-78812400	Enhancers	Osteobl	bone
31	chr7:78811800-78812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:78812000-78812400	Enhancers	NHLF	lung
33	chr7:78812000-78814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:78812000-78814200	Weak transcription	NHEK	skin
35	chr7:78812200-78814200	Weak transcription	HMEC	breast
36	chr7:78812400-78814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:78814200-78814800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:78814200-78815400	Enhancers	HMEC	breast
39	chr7:78814200-78816000	Enhancers	NHEK	skin
40	chr7:78814400-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:78814800-78815000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:78814800-78815600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:78815600-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:78822200-78822800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:78822800-78823200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:78823200-78823400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:78823400-78823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:78823400-78829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:78823800-78824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:78824200-78824800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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