Variant report

Variant	nsv1033783
Chromosome Location	chr7:70955277-71023877
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	chr7:70321617..70322562-chr7:70976561..70977221,2	MCF-7	breast:

Extended variants
information (count: 2862 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2862 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7779076	chr7:70955277-70955278	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552910612	chr7:70955286-70955287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546494572	chr7:70955378-70955379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182580012	chr7:70955385-70955386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528923241	chr7:70955392-70955393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550635616	chr7:70955395-70955396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568887939	chr7:70955402-70955403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558591051	chr7:70955431-70955432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186390268	chr7:70955442-70955443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551970180	chr7:70955453-70955454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567078967	chr7:70955477-70955478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534445756	chr7:70955503-70955504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556141039	chr7:70955602-70955603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367918053	chr7:70955642-70955643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74908078	chr7:70955643-70955644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374907263	chr7:70955645-70955646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79791208	chr7:70955648-70955649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556545919	chr7:70955742-70955743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191691767	chr7:70955747-70955748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115211554	chr7:70955773-70955774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557485931	chr7:70955818-70955819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6415226	chr7:70955840-70955841	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540127581	chr7:70955853-70955854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561868652	chr7:70955858-70955859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574797490	chr7:70955879-70955880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528859061	chr7:70955901-70955902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543833796	chr7:70955945-70955946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562518895	chr7:70955955-70955956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533016923	chr7:70955970-70955971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112480638	chr7:70956008-70956009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567064993	chr7:70956009-70956010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527926818	chr7:70956017-70956018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1869878	chr7:70956058-70956059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549634098	chr7:70956089-70956090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567889231	chr7:70956142-70956143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10258542	chr7:70956154-70956155	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183592935	chr7:70956167-70956168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543668920	chr7:70956189-70956190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77258219	chr7:70956204-70956205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538745781	chr7:70956280-70956281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188930175	chr7:70956305-70956306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192515841	chr7:70956335-70956336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572686804	chr7:70956344-70956345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73367531	chr7:70956345-70956346	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs151103604	chr7:70956347-70956348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573819540	chr7:70956364-70956365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116016547	chr7:70956366-70956367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183223953	chr7:70956367-70956368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562296816	chr7:70956376-70956377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34410004	chr7:70956426-70956427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	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
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70944000-70962200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:70944200-70962200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:70945400-70962000	Weak transcription	Fetal Stomach	stomach
4	chr7:70946800-70972600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:70947800-70972600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:70948200-70962200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:70951600-70960800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:70952200-70961200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:70953000-70956200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:70953400-70962000	Weak transcription	Ovary	ovary
11	chr7:70953600-70962200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:70954600-70962200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:70954800-70960600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:70954800-70960800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:70955000-70962000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:70955000-70962200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:70955000-70962400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:70955400-70962400	Weak transcription	Fetal Heart	heart
19	chr7:70956200-70956600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:70956200-70956800	Enhancers	Fetal Lung	lung
21	chr7:70956200-70956800	Enhancers	Fetal Muscle Leg	muscle
22	chr7:70956200-70956800	Enhancers	Rectal Smooth Muscle	rectum
23	chr7:70956600-70962000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:70956800-70960600	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:70956800-70962400	Weak transcription	Fetal Lung	lung
26	chr7:70960000-70960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:70960400-70960800	Weak transcription	Left Ventricle	heart
28	chr7:70960600-70960800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:70960600-70960800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:70960600-70961400	Enhancers	Spleen	Spleen
31	chr7:70960600-70963400	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:70960600-70963800	Enhancers	Fetal Muscle Leg	muscle
33	chr7:70960800-70961000	Enhancers	Left Ventricle	heart
34	chr7:70960800-70962400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:70960800-70962800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:70960800-70965000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:70961000-70962200	Weak transcription	Left Ventricle	heart
38	chr7:70961000-70962400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:70961200-70961800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:70961800-70969800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:70962000-70962600	Enhancers	Ovary	ovary
42	chr7:70962000-70962800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:70962000-70962800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:70962000-70962800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:70962000-70962800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:70962000-70963000	Enhancers	Fetal Stomach	stomach
47	chr7:70962200-70962600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:70962200-70962800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr7:70962200-70962800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:70962200-70962800	Enhancers	HUES6 Cell Line	embryonic stem cell

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