Variant report

Variant	nsv5808
Chromosome Location	chr7:79453632-79502455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:79453655..79455160-chr7:79459736..79461374,2	K562	blood:
2	chr7:79453655..79455160-chr7:79459736..79461374,2	K562	blood:
3	chr7:79453655..79455461-chr7:79459874..79462573,2	K562	blood:
4	chr7:79453655..79455461-chr7:79459874..79462573,2	K562	blood:

Extended variants
information (count: 817 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369746460	chr7:79453663-79453664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369434049	chr7:79453664-79453665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55654448	chr7:79453676-79453677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377700907	chr7:79453692-79453693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397888956	chr7:79453694-79453695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200089702	chr7:79453695-79453696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370534143	chr7:79453709-79453710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574918810	chr7:79453728-79453729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138960599	chr7:79453797-79453798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557489602	chr7:79453803-79453804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577419473	chr7:79453805-79453806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546180141	chr7:79453809-79453810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115322241	chr7:79453811-79453812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540278813	chr7:79453869-79453870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570610305	chr7:79453903-79453904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148991137	chr7:79453909-79453910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189707788	chr7:79453918-79453919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143766081	chr7:79453950-79453951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549567057	chr7:79454129-79454130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563001055	chr7:79454140-79454141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192086133	chr7:79454178-79454179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551725076	chr7:79454180-79454181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565517552	chr7:79454219-79454220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184481268	chr7:79454270-79454271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548591465	chr7:79454280-79454281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188980859	chr7:79454281-79454282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12531391	chr7:79454292-79454293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73143893	chr7:79454328-79454329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577377911	chr7:79454339-79454340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539961438	chr7:79454373-79454374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186366704	chr7:79454375-79454376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12531419	chr7:79454414-79454415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542251135	chr7:79454465-79454466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560950737	chr7:79454469-79454470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148000716	chr7:79454488-79454489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189332698	chr7:79454492-79454493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543177023	chr7:79454530-79454531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372873358	chr7:79454552-79454553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141691885	chr7:79454612-79454613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532203333	chr7:79454653-79454654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180968452	chr7:79454662-79454663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116855358	chr7:79454690-79454691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375750257	chr7:79454700-79454701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145755023	chr7:79454708-79454709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548173423	chr7:79454723-79454724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186518196	chr7:79454727-79454728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138684154	chr7:79454757-79454758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534831737	chr7:79454778-79454779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562565690	chr7:79454815-79454816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142891022	chr7:79454841-79454842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79449800-79457400	Weak transcription	NHLF	lung
2	chr7:79450400-79457000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:79452800-79454200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:79454200-79455000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:79455200-79456000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:79456000-79457400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:79456600-79456800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:79457000-79457800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:79457400-79457800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:79457400-79458800	Enhancers	NHLF	lung
11	chr7:79465800-79466000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:79483400-79483800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:79483400-79484000	Enhancers	Adipose Nuclei	Adipose
14	chr7:79483800-79484000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:79484000-79484400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:79484000-79484600	Weak transcription	Adipose Nuclei	Adipose
17	chr7:79484400-79484600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:79484600-79484800	Enhancers	Adipose Nuclei	Adipose
19	chr7:79484600-79485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:79490400-79490600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:79490600-79492000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:79492000-79492400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:79492000-79492400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:79492400-79501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:79497000-79497200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:79497200-79497400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:79497200-79497400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:79497200-79497400	Active TSS	Adipose Nuclei	Adipose
29	chr7:79497200-79497600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:79497200-79497800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:79497200-79498200	Enhancers	Dnd41	blood
32	chr7:79497400-79497600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr7:79497400-79497800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:79497400-79497800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:79497400-79497800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:79497400-79497800	Active TSS	NHLF	lung
37	chr7:79497400-79497800	Active TSS	Osteobl	bone
38	chr7:79497400-79498000	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:79497400-79498000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:79497600-79497800	Enhancers	Adipose Nuclei	Adipose
41	chr7:79497600-79498000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:79497800-79498400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:79498200-79505600	Weak transcription	Dnd41	blood
44	chr7:79501600-79501800	Enhancers	Pancreatic Islets	Pancreatic Islet

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