Variant report

Variant	nsv888122
Chromosome Location	chr7:61245220-61736882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
2	chr7:61552820..61553340-chr9:66822994..66823521,2	MCF-7	breast:
3	chr7:61552820..61553340-chr9:66795352..66795871,2	MCF-7	breast:
4	chr7:61552820..61553340-chr8:46850618..46851139,4	MCF-7	breast:

Extended variants
information (count: 3989 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3989 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572032826	chr7:61245227-61245228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545819566	chr7:61245228-61245229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564143775	chr7:61245230-61245231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200346594	chr7:61245236-61245237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543188221	chr7:61245238-61245239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563076156	chr7:61245244-61245245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368839713	chr7:61245245-61245246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372431291	chr7:61245246-61245247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530270823	chr7:61245252-61245253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201318754	chr7:61245254-61245255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376160504	chr7:61245258-61245259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201939725	chr7:61245261-61245262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527650277	chr7:61245266-61245267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552167518	chr7:61245271-61245272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570790365	chr7:61245273-61245274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538313228	chr7:61245282-61245283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556427635	chr7:61245286-61245287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568239941	chr7:61245287-61245288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535303379	chr7:61245295-61245296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554064292	chr7:61245302-61245303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200240622	chr7:61245303-61245304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572393790	chr7:61245307-61245308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545783021	chr7:61245325-61245326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557773071	chr7:61245326-61245327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79311259	chr7:61245333-61245334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575981733	chr7:61245334-61245335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75324620	chr7:61245336-61245337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76824440	chr7:61245340-61245341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9691571	chr7:61245343-61245344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183651421	chr7:61245344-61245345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565076383	chr7:61245348-61245349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80046718	chr7:61245349-61245350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530267566	chr7:61245351-61245352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542039096	chr7:61245352-61245353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9691154	chr7:61245361-61245362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376754397	chr7:61245363-61245364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141901144	chr7:61245365-61245366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139816757	chr7:61245366-61245367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200354847	chr7:61245369-61245370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570819931	chr7:61245376-61245377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141340494	chr7:61245380-61245381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145621497	chr7:61245400-61245401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142803809	chr7:61245406-61245407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139450728	chr7:61245408-61245409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186764879	chr7:61245409-61245410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527452808	chr7:61245410-61245411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547630251	chr7:61245411-61245412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146853056	chr7:61245419-61245420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565918498	chr7:61245420-61245421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369389102	chr7:61245421-61245422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Glioblastoma	21080181	CNVD
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61244000-61246000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:61246000-61246200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
3	chr7:61382400-61382600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr7:61510400-61510800	ZNF genes & repeats	Psoas Muscle	Psoas
5	chr7:61510400-61515200	ZNF genes & repeats	Liver	Liver
6	chr7:61510600-61515000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:61510800-61516800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:61511000-61514600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr7:61511800-61515200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr7:61513200-61514400	ZNF genes & repeats	Fetal Heart	heart
11	chr7:61515000-61515400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:61515000-61515400	ZNF genes & repeats	HUVEC	blood vessel
13	chr7:61515400-61519200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:61517000-61524800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:61519200-61519600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:61519200-61519600	ZNF genes & repeats	HUVEC	blood vessel
17	chr7:61519200-61519600	Bivalent Enhancer	K562	blood
18	chr7:61522600-61525200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr7:61528000-61529600	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr7:61528400-61531600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr7:61528400-61531600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr7:61528600-61529000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr7:61528600-61529000	Active TSS	Aorta	Aorta
24	chr7:61528600-61529000	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr7:61528600-61531400	ZNF genes & repeats	Liver	Liver
26	chr7:61528800-61531600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:61534600-61560200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr7:61534800-61535200	Active TSS	Fetal Heart	heart
29	chr7:61534800-61535400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr7:61534800-61560000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr7:61535200-61560000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:61535400-61537800	ZNF genes & repeats	Liver	Liver
33	chr7:61536000-61560200	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr7:61536400-61560000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr7:61538000-61538400	Active TSS	Aorta	Aorta
36	chr7:61539200-61543800	ZNF genes & repeats	Liver	Liver
37	chr7:61539600-61540800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr7:61540000-61541400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr7:61540000-61558600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr7:61540200-61540600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:61540200-61541400	ZNF genes & repeats	Fetal Lung	lung
42	chr7:61540600-61543200	ZNF genes & repeats	HepG2	liver
43	chr7:61540800-61541200	Active TSS	Right Atrium	heart
44	chr7:61541000-61541200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr7:61541200-61542600	Weak transcription	Right Atrium	heart
46	chr7:61541400-61542400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:61541800-61543400	Active TSS	Aorta	Aorta
48	chr7:61542200-61543000	ZNF genes & repeats	HMEC	breast
49	chr7:61542400-61542600	Bivalent/Poised TSS	K562	blood
50	chr7:61542400-61542800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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