Variant report

Variant	nsv607665
Chromosome Location	chr7:79027730-79063644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:79053495..79057290-chr7:79076509..79078816,3	MCF-7	breast:
2	chr7:79036736..79038245-chr7:79041747..79043274,2	K562	blood:
3	chr7:78977361..78978896-chr7:79043903..79046403,2	K562	blood:
4	chr7:79036736..79038245-chr7:79041747..79043274,2	K562	blood:

Extended variants
information (count: 1434 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1434 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2107992	chr7:79027730-79027731	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551502558	chr7:79027744-79027745	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571644115	chr7:79027745-79027746	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533151873	chr7:79027747-79027748	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76569430	chr7:79027800-79027801	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186958114	chr7:79027832-79027833	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535717788	chr7:79027843-79027844	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs117485686	chr7:79027870-79027871	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562733773	chr7:79027885-79027886	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537830853	chr7:79027889-79027890	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557837797	chr7:79027918-79027919	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191549143	chr7:79027933-79027934	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10953851	chr7:79027958-79027959	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs76565417	chr7:79027961-79027962	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10953852	chr7:79028020-79028021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77165916	chr7:79028058-79028059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562835421	chr7:79028066-79028067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372840432	chr7:79028092-79028093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559646379	chr7:79028103-79028104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375525772	chr7:79028291-79028292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115039011	chr7:79028368-79028369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565385266	chr7:79028396-79028397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527747960	chr7:79028398-79028399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199930461	chr7:79028399-79028400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13242257	chr7:79028400-79028401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77188654	chr7:79028401-79028402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13225401	chr7:79028406-79028407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs68164396	chr7:79028411-79028412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs66785892	chr7:79028412-79028413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566577692	chr7:79028423-79028424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148374398	chr7:79028424-79028425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117303175	chr7:79028425-79028426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35003046	chr7:79028426-79028427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533395443	chr7:79028494-79028495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188463185	chr7:79028504-79028505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552389192	chr7:79028505-79028506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571342743	chr7:79028525-79028526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533681475	chr7:79028537-79028538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551440635	chr7:79028550-79028551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553817153	chr7:79028608-79028609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573939402	chr7:79028628-79028629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368282278	chr7:79028676-79028677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35031055	chr7:79028765-79028766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542811490	chr7:79028771-79028772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375127256	chr7:79028787-79028788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113198575	chr7:79028810-79028811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141923049	chr7:79028828-79028829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs970491	chr7:79028853-79028854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150677299	chr7:79028860-79028861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10260696	chr7:79028861-79028862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79017600-79030400	Weak transcription	Brain Substantia Nigra	brain
2	chr7:79026800-79028000	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr7:79026800-79028000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:79027000-79028000	Enhancers	Brain Anterior Caudate	brain
5	chr7:79027000-79028400	Enhancers	HUVEC	blood vessel
6	chr7:79027200-79027800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:79027200-79028200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:79027400-79027800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:79027400-79027800	Enhancers	Adipose Nuclei	Adipose
10	chr7:79027400-79027800	Enhancers	Right Atrium	heart
11	chr7:79027400-79027800	Enhancers	NHDF-Ad	bronchial
12	chr7:79027400-79028000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:79027400-79028000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:79027400-79028000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:79027400-79028000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:79027400-79028000	Enhancers	Brain Cingulate Gyrus	brain
17	chr7:79027400-79028200	Enhancers	NHLF	lung
18	chr7:79027400-79028200	Enhancers	Osteobl	bone
19	chr7:79027400-79028400	Enhancers	Brain Hippocampus Middle	brain
20	chr7:79027600-79027800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:79027600-79027800	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr7:79027600-79028000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:79027600-79028000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:79027600-79028000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:79027800-79028000	Active TSS	Brain Angular Gyrus	brain
26	chr7:79027800-79030400	Weak transcription	Adipose Nuclei	Adipose
27	chr7:79027800-79032200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:79027800-79032200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:79027800-79033200	Weak transcription	NHDF-Ad	bronchial
30	chr7:79028000-79029800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:79028000-79029800	Weak transcription	Brain Angular Gyrus	brain
32	chr7:79028000-79030400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:79028000-79030600	Weak transcription	Brain Anterior Caudate	brain
34	chr7:79028000-79032200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:79028000-79032600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:79028000-79033200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:79028000-79033200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:79028000-79034600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:79028200-79028600	Weak transcription	NHLF	lung
40	chr7:79028200-79032200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:79028200-79032200	Weak transcription	Osteobl	bone
42	chr7:79028400-79030400	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:79028600-79028800	Enhancers	NHLF	lung
44	chr7:79028800-79032200	Weak transcription	NHLF	lung
45	chr7:79029400-79031000	Enhancers	Fetal Lung	lung
46	chr7:79029800-79031000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:79029800-79031000	Enhancers	Brain Angular Gyrus	brain
48	chr7:79029800-79036400	Enhancers	Liver	Liver
49	chr7:79030400-79030800	Enhancers	Brain Hippocampus Middle	brain
50	chr7:79030400-79030800	Enhancers	Brain Inferior Temporal Lobe	brain

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