Variant report

Variant	nsv519172
Chromosome Location	chr7:47729511-47731420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47730789..47733579-chr7:47824840..47827791,2	MCF-7	breast:
2	chr7:47614357..47617342-chr7:47728067..47729946,2	MCF-7	breast:
3	chr7:47731019..47733171-chr7:47747681..47749285,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4720608	chr7:47729511-47729512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143020317	chr7:47729552-47729553	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144666384	chr7:47729582-47729583	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73107230	chr7:47729591-47729592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35237613	chr7:47729600-47729601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148543008	chr7:47729621-47729622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7784060	chr7:47729627-47729628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539432320	chr7:47729640-47729641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552665784	chr7:47729669-47729670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572896613	chr7:47729683-47729684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541519692	chr7:47729736-47729737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112638633	chr7:47729787-47729788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575143410	chr7:47729824-47729825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10272181	chr7:47729875-47729876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564074056	chr7:47729895-47729896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59616512	chr7:47729910-47729911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397952959	chr7:47729920-47729921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533044527	chr7:47729929-47729930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540646313	chr7:47729932-47729933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72175923	chr7:47729939-47729940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58689294	chr7:47729940-47729941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201018117	chr7:47729943-47729944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560245439	chr7:47729987-47729988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10275600	chr7:47730011-47730012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10275398	chr7:47730045-47730046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181205512	chr7:47730059-47730060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10275720	chr7:47730105-47730106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551968176	chr7:47730164-47730165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56042103	chr7:47730227-47730228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190292797	chr7:47730237-47730238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552940899	chr7:47730239-47730240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181667781	chr7:47730255-47730256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535429732	chr7:47730258-47730259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142865783	chr7:47730275-47730276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574979596	chr7:47730286-47730287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537666526	chr7:47730302-47730303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150574706	chr7:47730304-47730305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553180699	chr7:47730326-47730327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10275779	chr7:47730360-47730361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10275780	chr7:47730362-47730363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560389566	chr7:47730365-47730366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370464517	chr7:47730371-47730372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146761006	chr7:47730408-47730409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543025265	chr7:47730448-47730449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562984134	chr7:47730454-47730455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531810270	chr7:47730469-47730470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552005375	chr7:47730471-47730472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10246400	chr7:47730485-47730486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577305920	chr7:47730491-47730492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187588566	chr7:47730530-47730531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47720000-47732400	Weak transcription	Spleen	Spleen
2	chr7:47725800-47732400	Weak transcription	Placenta	Placenta
3	chr7:47725800-47732400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:47725800-47734000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:47726000-47732400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:47726200-47730400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:47727400-47729800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:47728000-47729600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:47728000-47729600	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:47728000-47729600	Enhancers	Brain Hippocampus Middle	brain
11	chr7:47728000-47729800	Enhancers	HepG2	liver
12	chr7:47728200-47729800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:47728400-47732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:47728600-47730600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:47728600-47730600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:47728600-47730800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:47728600-47730800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:47728800-47729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:47729000-47729600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:47729000-47729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:47729200-47729600	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:47729200-47729600	Enhancers	Brain Anterior Caudate	brain
23	chr7:47729200-47729600	Enhancers	Fetal Thymus	thymus
24	chr7:47729200-47730400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:47729200-47730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:47729200-47730800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:47729200-47731200	Enhancers	Liver	Liver
28	chr7:47729400-47729600	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr7:47729400-47729600	Enhancers	HSMMtube	muscle
30	chr7:47729400-47730600	Weak transcription	A549	lung
31	chr7:47729400-47730600	Weak transcription	NHLF	lung
32	chr7:47729400-47730800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:47729400-47731000	Enhancers	Aorta	Aorta
34	chr7:47729600-47729800	Enhancers	Brain Substantia Nigra	brain
35	chr7:47729600-47730600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:47729600-47730600	Weak transcription	HSMMtube	muscle
37	chr7:47729600-47730800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:47729600-47730800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:47729600-47733400	Weak transcription	Brain Anterior Caudate	brain
40	chr7:47729800-47730000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:47729800-47730800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:47729800-47730800	Weak transcription	HepG2	liver
43	chr7:47730000-47730400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:47730200-47731400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:47730400-47731400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:47730600-47731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:47730600-47731000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr7:47730600-47731000	Enhancers	NHLF	lung
49	chr7:47730600-47731000	Enhancers	Osteobl	bone
50	chr7:47730600-47731200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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