Variant report

Variant	esv3418587
Chromosome Location	chr7:40477827-40479775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555194620	chr7:40477880-40477881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138917813	chr7:40477929-40477930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191123711	chr7:40477968-40477969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370906366	chr7:40477976-40477977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78457535	chr7:40477978-40477979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577165152	chr7:40478034-40478035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114716051	chr7:40478055-40478056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373590153	chr7:40478089-40478090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557124160	chr7:40478094-40478095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370654137	chr7:40478108-40478109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114254599	chr7:40478131-40478132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80088525	chr7:40478132-40478133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367649210	chr7:40478153-40478154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78387035	chr7:40478266-40478267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371470885	chr7:40478268-40478269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575404517	chr7:40478280-40478281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374518426	chr7:40478288-40478289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527741290	chr7:40478311-40478312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541582555	chr7:40478326-40478327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547862222	chr7:40478327-40478328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34855064	chr7:40478421-40478422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570853247	chr7:40478423-40478424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35299005	chr7:40478424-40478425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137934211	chr7:40478436-40478437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368675410	chr7:40478445-40478446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373817172	chr7:40478467-40478468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371868263	chr7:40478542-40478543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532883362	chr7:40478559-40478560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569906778	chr7:40478577-40478578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182963952	chr7:40478621-40478622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143778199	chr7:40478636-40478637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs5883731	chr7:40478660-40478661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112989212	chr7:40478663-40478664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199807619	chr7:40478665-40478666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200732990	chr7:40478667-40478668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371009864	chr7:40478669-40478670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374226027	chr7:40478671-40478672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368344024	chr7:40478673-40478674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372732124	chr7:40478675-40478676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377256458	chr7:40478677-40478678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367563274	chr7:40478679-40478680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371477441	chr7:40478681-40478682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559253023	chr7:40478685-40478686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555497193	chr7:40478691-40478692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374579981	chr7:40478693-40478694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565438473	chr7:40478695-40478696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188803255	chr7:40478697-40478698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534408974	chr7:40478721-40478722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559677464	chr7:40478763-40478764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557371225	chr7:40478789-40478790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40475800-40479600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:40476000-40478000	Weak transcription	Aorta	Aorta
3	chr7:40476000-40478400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:40476000-40478400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:40476000-40478600	Enhancers	HSMMtube	muscle
6	chr7:40476000-40479600	Enhancers	NHDF-Ad	bronchial
7	chr7:40476200-40478200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:40476200-40479000	Enhancers	HSMM	muscle
9	chr7:40476200-40479000	Enhancers	Osteobl	bone
10	chr7:40476400-40478000	Enhancers	HUVEC	blood vessel
11	chr7:40476400-40478200	Enhancers	NHLF	lung
12	chr7:40476400-40478600	Enhancers	NH-A	brain
13	chr7:40476600-40478000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:40476600-40478000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:40476600-40478000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:40476600-40478200	Enhancers	HMEC	breast
17	chr7:40476600-40478200	Enhancers	NHEK	skin
18	chr7:40476600-40478600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:40476800-40478000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:40476800-40478200	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:40477000-40478000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:40477000-40478200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:40477000-40478400	Enhancers	Placenta	Placenta
24	chr7:40477000-40478400	Enhancers	Psoas Muscle	Psoas
25	chr7:40477000-40479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:40477200-40478400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:40477800-40478400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:40477800-40478600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:40478000-40478400	Enhancers	Aorta	Aorta
30	chr7:40478200-40478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:40478200-40479400	Weak transcription	NHEK	skin
32	chr7:40478200-40480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:40478400-40479200	Weak transcription	Aorta	Aorta
34	chr7:40478400-40479400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:40478400-40479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:40478400-40480600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:40479200-40479600	ZNF genes & repeats	Aorta	Aorta
38	chr7:40479400-40479600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:40479400-40479600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:40479400-40479600	ZNF genes & repeats	NHEK	skin

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