Variant report

Variant	nsv606219
Chromosome Location	chr7:11975557-12010797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 969 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77260674	chr7:11975844-11975845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367824769	chr7:11975866-11975867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61110919	chr7:11975895-11975896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534322087	chr7:11975902-11975903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11367830	chr7:11975903-11975904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142734493	chr7:11975932-11975933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202064959	chr7:11975948-11975949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541877207	chr7:11975951-11975952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544769377	chr7:11975955-11975956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138973093	chr7:11975972-11975973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77827870	chr7:11975974-11975975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78037970	chr7:11975977-11975978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537395383	chr7:11975979-11975980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543494988	chr7:11976009-11976010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563368307	chr7:11976029-11976030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199731047	chr7:11976047-11976048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548308219	chr7:11976057-11976058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568056861	chr7:11976071-11976072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548686610	chr7:11976101-11976102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117404925	chr7:11976108-11976109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144884818	chr7:11976135-11976136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56931250	chr7:11976161-11976162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567559301	chr7:11976183-11976184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77826950	chr7:11989224-11989225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151262559	chr7:11989231-11989232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139259506	chr7:11989236-11989237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560708039	chr7:11989247-11989248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529828830	chr7:11989270-11989271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7796388	chr7:11989271-11989272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7779211	chr7:11989290-11989291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532250018	chr7:11989301-11989302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7799871	chr7:11989372-11989373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568838492	chr7:11989398-11989399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116301853	chr7:11989406-11989407	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs149981336	chr7:11989425-11989426	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191736602	chr7:11989452-11989453	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7800268	chr7:11989470-11989471	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7800415	chr7:11989554-11989555	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4637708	chr7:11989555-11989556	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7800416	chr7:11989556-11989557	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556233916	chr7:11989570-11989571	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576393948	chr7:11989575-11989576	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111839054	chr7:11989675-11989676	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs575075622	chr7:11989707-11989708	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145142846	chr7:11989708-11989709	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554439423	chr7:11989711-11989712	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574427048	chr7:11989724-11989725	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544493411	chr7:11989725-11989726	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73285074	chr7:11989748-11989749	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560318414	chr7:11989756-11989757	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11975800-11976200	Enhancers	Fetal Lung	lung
2	chr7:11989200-11989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:11989400-11989600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:11989400-11989600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:11989400-11989600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:11989400-11989800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:11989400-11990200	ZNF genes & repeats	Pancreas	Pancrea
8	chr7:11989600-11997200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:11989800-11990000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:11989800-11990600	Enhancers	Placenta	Placenta
11	chr7:11989800-11991200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:11990400-11990800	Weak transcription	Pancreas	Pancrea
13	chr7:11990400-11991000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:11991000-11991400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:11991400-11991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:11995600-11997200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:11997200-11997400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr7:11997400-11997600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:11997400-12009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:11997600-11997800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:11997600-11997800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:11997800-11998400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:11997800-11998400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:11998000-11999000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:11998400-11998600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:11998400-11998800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:11998400-11999200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:11998600-11998800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:11998600-12000400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:11998800-11999000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:11998800-11999600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:11998800-11999800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:11999000-11999200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:11999000-11999400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr7:11999200-12000800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:11999400-11999600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr7:11999600-11999800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:12008600-12009800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:12009000-12009800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:12009200-12010000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:12009200-12010200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:12009400-12009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:12009400-12010200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:12009600-12010400	Enhancers	Rectal Mucosa Donor 31	rectum

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