Variant report

Variant	nsv437555
Chromosome Location	chr7:78827136-78856704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 865 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10255385	chr7:78827136-78827137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140117997	chr7:78827179-78827180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575535627	chr7:78827183-78827184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544158342	chr7:78827231-78827232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10255517	chr7:78827251-78827252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564153766	chr7:78827258-78827259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192002653	chr7:78827272-78827273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77497957	chr7:78827282-78827283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183534917	chr7:78827297-78827298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187251960	chr7:78827302-78827303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35728316	chr7:78827320-78827321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548465303	chr7:78827338-78827339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191994551	chr7:78827354-78827355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547856181	chr7:78827375-78827376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530837951	chr7:78827391-78827392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146369015	chr7:78827392-78827393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10255906	chr7:78827506-78827507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142563556	chr7:78827540-78827541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530244820	chr7:78827541-78827542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549686363	chr7:78827562-78827563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200259353	chr7:78827582-78827583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4020772	chr7:78827583-78827584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2364346	chr7:78827586-78827587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186974934	chr7:78827630-78827631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150929805	chr7:78827650-78827651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370693816	chr7:78827655-78827656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374035917	chr7:78827671-78827672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528886806	chr7:78827721-78827722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376861480	chr7:78827750-78827751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139483084	chr7:78827791-78827792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149741947	chr7:78827802-78827803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538167440	chr7:78827836-78827837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191754025	chr7:78827839-78827840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147858299	chr7:78827860-78827861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577647275	chr7:78827881-78827882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540709690	chr7:78827882-78827883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560425848	chr7:78827928-78827929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574085103	chr7:78827939-78827940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541622193	chr7:78827944-78827945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561881895	chr7:78827969-78827970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530799998	chr7:78827971-78827972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373021964	chr7:78828006-78828007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550923468	chr7:78828019-78828020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569855623	chr7:78828046-78828047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376044508	chr7:78828047-78828048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538524191	chr7:78828060-78828061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182772290	chr7:78828074-78828075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141464155	chr7:78828097-78828098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567067512	chr7:78828388-78828389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546577970	chr7:78828400-78828401	Weak transcription	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78823400-78829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:78829000-78829400	Enhancers	Osteobl	bone
3	chr7:78829000-78829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:78829000-78829600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:78829000-78829800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:78829000-78831000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:78829000-78831000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:78829200-78829600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:78829200-78829800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:78829200-78829800	Enhancers	NHDF-Ad	bronchial
11	chr7:78830200-78830600	Enhancers	Brain Angular Gyrus	brain
12	chr7:78831000-78833400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:78833400-78833800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:78833400-78833800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:78833400-78833800	ZNF genes & repeats	Aorta	Aorta
16	chr7:78840800-78841400	Enhancers	Liver	Liver
17	chr7:78841000-78842400	Enhancers	HepG2	liver
18	chr7:78841400-78841600	Flanking Active TSS	Liver	Liver
19	chr7:78841600-78842200	Enhancers	Liver	Liver
20	chr7:78842200-78847000	Weak transcription	Liver	Liver
21	chr7:78842400-78845400	Weak transcription	HepG2	liver
22	chr7:78844600-78845000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:78845400-78846000	Enhancers	Lung	lung
24	chr7:78845400-78847000	Enhancers	HepG2	liver
25	chr7:78845800-78846200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:78845800-78846200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:78846000-78846200	Enhancers	Fetal Intestine Small	intestine
28	chr7:78846200-78847200	Weak transcription	Fetal Intestine Small	intestine
29	chr7:78846200-78856400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:78846600-78847400	Enhancers	HUVEC	blood vessel
31	chr7:78846800-78847400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:78847000-78847400	Enhancers	Liver	Liver
33	chr7:78847000-78847400	Flanking Active TSS	HepG2	liver
34	chr7:78847000-78847600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:78847200-78847600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:78847200-78848400	Enhancers	Fetal Intestine Small	intestine
37	chr7:78847400-78847800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr7:78847400-78847800	Active TSS	HepG2	liver
39	chr7:78847400-78848000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:78847400-78850000	Weak transcription	Liver	Liver
41	chr7:78847600-78847800	Enhancers	Fetal Brain Male	brain
42	chr7:78847800-78848000	Flanking Active TSS	HepG2	liver
43	chr7:78847800-78848200	Weak transcription	Fetal Brain Male	brain
44	chr7:78847800-78850000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:78848000-78848200	Enhancers	HepG2	liver
46	chr7:78848200-78849800	Enhancers	Fetal Brain Male	brain
47	chr7:78849400-78850000	Enhancers	Colonic Mucosa	Colon
48	chr7:78850000-78850200	Active TSS	Liver	Liver
49	chr7:78850000-78850600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr7:78850200-78850400	Weak transcription	Liver	Liver

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