Variant report

Variant	nsv526963
Chromosome Location	chr7:47741157-47750051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47513598..47515664-chr7:47748978..47751641,2	MCF-7	breast:
2	chr7:47731019..47733171-chr7:47747681..47749285,2	MCF-7	breast:
3	chr7:47640494..47642144-chr7:47748546..47750324,2	MCF-7	breast:
4	chr7:47731657..47733270-chr7:47740448..47743349,2	MCF-7	breast:
5	chr7:47732465..47733984-chr7:47739980..47741778,2	MCF-7	breast:

Extended variants
information (count: 438 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6947796	chr7:47741157-47741158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574133873	chr7:47741162-47741163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542869625	chr7:47741169-47741170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148245609	chr7:47741183-47741184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531147885	chr7:47741188-47741189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11764105	chr7:47741191-47741192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545730809	chr7:47741225-47741226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565229660	chr7:47741249-47741250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377100998	chr7:47741302-47741303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386712902	chr7:47741342-47741343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4269439	chr7:47741344-47741345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10240563	chr7:47741362-47741363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4464871	chr7:47741376-47741377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569518725	chr7:47741419-47741420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76371781	chr7:47741441-47741442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141232827	chr7:47741450-47741451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571524852	chr7:47741452-47741453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34543139	chr7:47741478-47741479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374177688	chr7:47741479-47741480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200293210	chr7:47741480-47741481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201751911	chr7:47741481-47741482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534184792	chr7:47741487-47741488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147433321	chr7:47741500-47741501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182190632	chr7:47741525-47741526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574069140	chr7:47741544-47741545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187340052	chr7:47741558-47741559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571523745	chr7:47741572-47741573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138173219	chr7:47741724-47741725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78652567	chr7:47741826-47741827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10256699	chr7:47741827-47741828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372774116	chr7:47741828-47741829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572378482	chr7:47741834-47741835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143442383	chr7:47741940-47741941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147134773	chr7:47741970-47741971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528861797	chr7:47741995-47741996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549108579	chr7:47742042-47742043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562430796	chr7:47742058-47742059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531539681	chr7:47742072-47742073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191757741	chr7:47742123-47742124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571584657	chr7:47742128-47742129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553915305	chr7:47742139-47742140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543766624	chr7:47742165-47742166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139535159	chr7:47742213-47742214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13239888	chr7:47742272-47742273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536995330	chr7:47742290-47742291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567702333	chr7:47742324-47742325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536242071	chr7:47742389-47742390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10245083	chr7:47742392-47742393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576413230	chr7:47742491-47742492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11979338	chr7:47742544-47742545	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47731200-47741600	Weak transcription	Right Atrium	heart
2	chr7:47733000-47750000	Weak transcription	Aorta	Aorta
3	chr7:47733200-47741400	Weak transcription	A549	lung
4	chr7:47734000-47748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:47734600-47748200	Weak transcription	Fetal Stomach	stomach
6	chr7:47738400-47741600	Weak transcription	HSMMtube	muscle
7	chr7:47740000-47744800	Weak transcription	Fetal Kidney	kidney
8	chr7:47740000-47744800	Weak transcription	Pancreas	Pancrea
9	chr7:47741400-47742000	Enhancers	A549	lung
10	chr7:47741600-47742000	Enhancers	HepG2	liver
11	chr7:47741600-47742800	Enhancers	HSMMtube	muscle
12	chr7:47742000-47748600	Weak transcription	A549	lung
13	chr7:47744800-47745400	Enhancers	Fetal Kidney	kidney
14	chr7:47745400-47748600	Weak transcription	Fetal Kidney	kidney
15	chr7:47747200-47747400	Enhancers	Fetal Intestine Small	intestine
16	chr7:47747200-47749200	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:47747400-47755200	Weak transcription	Fetal Intestine Small	intestine
18	chr7:47748200-47750400	Enhancers	Fetal Stomach	stomach
19	chr7:47748400-47749000	Enhancers	GM12878-XiMat	blood
20	chr7:47748400-47750800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:47748600-47748800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:47748600-47749000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:47748600-47749000	Enhancers	Fetal Kidney	kidney
24	chr7:47748600-47749200	Enhancers	Spleen	Spleen
25	chr7:47748600-47749400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:47748600-47750400	Enhancers	Stomach Smooth Muscle	stomach
27	chr7:47748600-47750400	Enhancers	A549	lung
28	chr7:47748600-47750600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:47748800-47755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:47749000-47749200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:47749000-47754200	Weak transcription	GM12878-XiMat	blood
32	chr7:47749200-47749400	Flanking Active TSS	Spleen	Spleen
33	chr7:47749200-47750000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:47749200-47750600	Enhancers	Colon Smooth Muscle	Colon
35	chr7:47749200-47753400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:47749400-47749600	Enhancers	Spleen	Spleen
37	chr7:47749400-47750600	Enhancers	Fetal Heart	heart
38	chr7:47749400-47751400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:47749600-47749800	Flanking Active TSS	Spleen	Spleen
40	chr7:47749600-47750400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr7:47749600-47750400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr7:47749600-47750400	Enhancers	Right Ventricle	heart
43	chr7:47749800-47750400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:47749800-47750600	Enhancers	Spleen	Spleen
45	chr7:47750000-47750200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:47750000-47750200	Enhancers	Aorta	Aorta
47	chr7:47750000-47750400	Enhancers	Fetal Muscle Leg	muscle

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