Variant report

Variant	nsv1028355
Chromosome Location	chr7:47715107-47758976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:47731657..47733270-chr7:47740448..47743349,2	MCF-7	breast:
2	chr7:47731019..47733171-chr7:47747681..47749285,2	MCF-7	breast:
3	chr7:47733692..47735989-chr7:47787740..47790017,2	MCF-7	breast:
4	chr7:47732465..47733984-chr7:47739980..47741778,2	MCF-7	breast:
5	chr7:47731657..47733270-chr7:47740448..47743349,2	MCF-7	breast:
6	chr7:47614357..47617342-chr7:47728067..47729946,2	MCF-7	breast:
7	chr7:47719300..47720946-chr7:47732065..47734145,2	MCF-7	breast:
8	chr7:47687322..47690027-chr7:47714537..47716150,2	MCF-7	breast:
9	chr7:47513598..47515664-chr7:47748978..47751641,2	MCF-7	breast:
10	chr7:47758562..47761407-chr7:47764047..47766786,2	MCF-7	breast:
11	chr7:47615532..47617126-chr7:47757928..47759519,2	MCF-7	breast:
12	chr7:47731019..47733171-chr7:47747681..47749285,2	MCF-7	breast:
13	chr7:47719300..47720946-chr7:47732065..47734145,2	MCF-7	breast:
14	chr7:47732465..47733984-chr7:47739980..47741778,2	MCF-7	breast:
15	chr7:47751987..47752487-chr8:103822998..103823507,2	K562	blood:
16	chr7:47646097..47647972-chr7:47737601..47739251,2	MCF-7	breast:
17	chr7:47640494..47642144-chr7:47748546..47750324,2	MCF-7	breast:
18	chr7:47619426..47621699-chr7:47736196..47738585,2	MCF-7	breast:
19	chr7:47730789..47733579-chr7:47824840..47827791,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136205	chromatin interactions

Extended variants
information (count: 2054 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:2054 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542446844	chr7:47715112-47715113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562306022	chr7:47715134-47715135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73336479	chr7:47715175-47715176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551602580	chr7:47715217-47715218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144809988	chr7:47715241-47715242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577884309	chr7:47715245-47715246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79307696	chr7:47715309-47715310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547811838	chr7:47715322-47715323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567790600	chr7:47715381-47715382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11761146	chr7:47715383-47715384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560124840	chr7:47715425-47715426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536730689	chr7:47715427-47715428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59099169	chr7:47715453-47715454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550413963	chr7:47715476-47715477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371427569	chr7:47715495-47715496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146980642	chr7:47715498-47715499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112125400	chr7:47715508-47715509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs36044054	chr7:47715526-47715527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71537224	chr7:47715527-47715528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34214382	chr7:47715533-47715534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575981184	chr7:47715577-47715578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559165195	chr7:47715602-47715603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369843882	chr7:47715633-47715634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139696657	chr7:47715653-47715654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6970270	chr7:47715659-47715660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540417547	chr7:47715696-47715697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553335695	chr7:47715698-47715699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573416832	chr7:47715699-47715700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542285373	chr7:47715743-47715744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371838060	chr7:47715770-47715771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7458333	chr7:47715785-47715786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74413524	chr7:47715850-47715851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185487408	chr7:47715861-47715862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28442161	chr7:47715895-47715896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189248222	chr7:47715972-47715973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527571733	chr7:47715973-47715974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180715631	chr7:47715980-47715981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531908548	chr7:47716018-47716019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530240991	chr7:47716023-47716024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550252824	chr7:47716045-47716046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141398224	chr7:47716075-47716076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539268241	chr7:47716112-47716113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142287246	chr7:47716114-47716115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6975137	chr7:47716115-47716116	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6974867	chr7:47716122-47716123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185602339	chr7:47716134-47716135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573251712	chr7:47716244-47716245	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535949170	chr7:47716248-47716249	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556261819	chr7:47716257-47716258	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6463430	chr7:47716264-47716265	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47706000-47721600	Enhancers	Placenta	Placenta
2	chr7:47709600-47717000	Weak transcription	HMEC	breast
3	chr7:47710600-47716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:47711000-47717800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:47711000-47718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:47711800-47715400	Enhancers	HepG2	liver
7	chr7:47711800-47716800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:47712200-47717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:47712400-47717000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:47713000-47715200	Weak transcription	Hela-S3	cervix
11	chr7:47713000-47716400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:47713000-47716400	Weak transcription	A549	lung
13	chr7:47713000-47717600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:47713200-47716200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:47713200-47717600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:47713200-47718000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:47713200-47718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:47713200-47720600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:47713400-47718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:47714200-47715800	Weak transcription	Primary B cells from cord blood	blood
21	chr7:47714200-47716400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:47715200-47715400	Enhancers	Hela-S3	cervix
23	chr7:47715400-47715800	Weak transcription	Hela-S3	cervix
24	chr7:47715400-47716000	Weak transcription	HepG2	liver
25	chr7:47715800-47718000	Enhancers	Hela-S3	cervix
26	chr7:47716000-47718000	Enhancers	HepG2	liver
27	chr7:47716200-47717400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr7:47716400-47716800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:47716400-47717200	ZNF genes & repeats	A549	lung
30	chr7:47716400-47717400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr7:47716400-47719000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:47716400-47719000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:47716600-47718400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:47716800-47717600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:47716800-47717600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:47717000-47718800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:47717200-47718200	Enhancers	HMEC	breast
38	chr7:47717200-47718800	Enhancers	Adipose Nuclei	Adipose
39	chr7:47717400-47717600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:47717400-47718000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:47717400-47718000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:47717400-47718200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:47717400-47720000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:47717400-47720400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:47717600-47718400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:47717600-47718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:47717600-47718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:47717600-47718600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr7:47717600-47718800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:47717600-47719000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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