Variant report

Variant	nsv887988
Chromosome Location	chr7:40685811-40782572
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40757616..40759165-chr7:40763686..40766590,2	MCF-7	breast:
2	chr7:40726789..40728453-chr7:40733960..40735674,2	K562	blood:
3	chr7:40756767..40759602-chr7:40763278..40766284,3	MCF-7	breast:
4	chr7:40769315..40772745-chr7:40773748..40777272,3	K562	blood:
5	chr7:40717841..40720122-chr7:40725569..40728338,2	MCF-7	breast:
6	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:
7	chr7:40782318..40784724-chr7:40791485..40793846,2	K562	blood:
8	chr7:40739877..40740575-chr7:40765897..40766832,3	MCF-7	breast:
9	chr7:40726789..40728453-chr7:40733960..40735674,2	K562	blood:
10	chr7:40739877..40740575-chr7:40765897..40766832,3	MCF-7	breast:
11	chr7:40726572..40729922-chr7:40745740..40747693,3	K562	blood:
12	chr7:40679489..40681796-chr7:40691535..40693864,2	MCF-7	breast:
13	chr7:40757616..40759165-chr7:40763686..40766590,2	MCF-7	breast:
14	chr7:40687539..40689554-chr7:40692603..40695088,2	K562	blood:
15	chr7:40717841..40720122-chr7:40725569..40728338,2	MCF-7	breast:
16	chr7:40769315..40772745-chr7:40773748..40777272,3	K562	blood:
17	chr7:40271921..40272777-chr7:40766227..40766815,2	MCF-7	breast:
18	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:
19	chr7:40687539..40689554-chr7:40692603..40695088,2	K562	blood:
20	chr7:40726572..40729922-chr7:40745740..40747693,3	K562	blood:
21	chr7:40756767..40759602-chr7:40763278..40766284,3	MCF-7	breast:

No data

Extended variants
information (count: 3244 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3244 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10282661	chr7:40685811-40685812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551175366	chr7:40685812-40685813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369911458	chr7:40685843-40685844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567800487	chr7:40685845-40685846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187845687	chr7:40685846-40685847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552304570	chr7:40685847-40685848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553144322	chr7:40685878-40685879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71536695	chr7:40685888-40685889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115670025	chr7:40685925-40685926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193144966	chr7:40685942-40685943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35312187	chr7:40685982-40685983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147488760	chr7:40686008-40686009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575424021	chr7:40686009-40686010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544034952	chr7:40686194-40686195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7782395	chr7:40686213-40686214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11981582	chr7:40686217-40686218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539944781	chr7:40686238-40686239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7782411	chr7:40686243-40686244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532148950	chr7:40686272-40686273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545455483	chr7:40686289-40686290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565602144	chr7:40686315-40686316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531220660	chr7:40686321-40686322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568429311	chr7:40686329-40686330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10589237	chr7:40686346-40686347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372127169	chr7:40686349-40686350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139925473	chr7:40686363-40686364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35785820	chr7:40686455-40686456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75949071	chr7:40686456-40686457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185636648	chr7:40686479-40686480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566821256	chr7:40686555-40686556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190106449	chr7:40686595-40686596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559350257	chr7:40686694-40686695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530313525	chr7:40686773-40686774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558662574	chr7:40686787-40686788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147256174	chr7:40686831-40686832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191979440	chr7:40686846-40686847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554398815	chr7:40686897-40686898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548839940	chr7:40686898-40686899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184051939	chr7:40686912-40686913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533250743	chr7:40686981-40686982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188391604	chr7:40687032-40687033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553854110	chr7:40687086-40687087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56899387	chr7:40687098-40687099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563492963	chr7:40687106-40687107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531155688	chr7:40687147-40687148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535619218	chr7:40687149-40687150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6954401	chr7:40687150-40687151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs545818726	chr7:40687153-40687154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370574486	chr7:40687175-40687176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139690753	chr7:40687207-40687208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Dyslexia	22102821	CNVD

Chromatin state (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40680600-40698000	Weak transcription	HSMMtube	muscle
2	chr7:40682200-40690400	Weak transcription	Aorta	Aorta
3	chr7:40683400-40686800	Enhancers	Fetal Thymus	thymus
4	chr7:40683800-40687400	Enhancers	Thymus	Thymus
5	chr7:40686400-40686600	Enhancers	NH-A	brain
6	chr7:40686400-40698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:40687000-40688200	Weak transcription	NH-A	brain
8	chr7:40687200-40687400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:40688000-40688400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:40688400-40692400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:40690400-40690600	ZNF genes & repeats	Pancreas	Pancrea
12	chr7:40690400-40690800	Strong transcription	Aorta	Aorta
13	chr7:40690600-40698800	Weak transcription	Pancreas	Pancrea
14	chr7:40690800-40691400	Enhancers	Primary T cells from cord blood	blood
15	chr7:40690800-40692600	Weak transcription	Aorta	Aorta
16	chr7:40692400-40692600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:40692600-40694000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:40692600-40694200	Enhancers	Aorta	Aorta
19	chr7:40693000-40693400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:40693200-40694400	Enhancers	Fetal Brain Male	brain
21	chr7:40694200-40698000	Weak transcription	Aorta	Aorta
22	chr7:40694400-40696000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:40695000-40695400	Enhancers	HSMM	muscle
24	chr7:40695000-40695400	Enhancers	NHDF-Ad	bronchial
25	chr7:40695000-40695600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:40695000-40695600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:40695200-40695600	Enhancers	Osteobl	bone
28	chr7:40695200-40696600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:40695400-40695800	Weak transcription	NHDF-Ad	bronchial
30	chr7:40695400-40698000	Weak transcription	HSMM	muscle
31	chr7:40695600-40697800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:40695600-40698000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:40695600-40698200	Weak transcription	Osteobl	bone
34	chr7:40695800-40696000	Enhancers	NHDF-Ad	bronchial
35	chr7:40696000-40698000	Weak transcription	NHDF-Ad	bronchial
36	chr7:40696000-40698600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:40696200-40696600	Enhancers	Fetal Thymus	thymus
38	chr7:40696600-40698000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:40697800-40699600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:40698000-40699200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:40698000-40699200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:40698000-40699400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:40698000-40699400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:40698000-40699400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:40698000-40699400	Enhancers	Aorta	Aorta
46	chr7:40698000-40699400	Enhancers	HSMM	muscle
47	chr7:40698000-40699400	Enhancers	HSMMtube	muscle
48	chr7:40698000-40699400	Enhancers	NHDF-Ad	bronchial
49	chr7:40698000-40699600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:40698200-40698400	Enhancers	Right Atrium	heart

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