Variant report

Variant	esv1827128
Chromosome Location	chr7:40862370-40886576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40873081..40874051-chr7:41750669..41751620,2	MCF-7	breast:
2	chr7:40883101..40886053-chr7:40887057..40889418,2	K562	blood:

Extended variants
information (count: 831 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10235458	chr7:40862370-40862371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533590803	chr7:40862371-40862372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543821666	chr7:40862375-40862376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565307917	chr7:40862398-40862399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368574967	chr7:40862409-40862410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368808006	chr7:40862424-40862425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1203571	chr7:40862445-40862446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186101414	chr7:40862502-40862503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190855996	chr7:40862538-40862539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555396203	chr7:40862547-40862548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548838325	chr7:40862647-40862648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570269567	chr7:40862664-40862665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537385110	chr7:40862708-40862709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549346855	chr7:40862731-40862732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181711149	chr7:40862737-40862738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17688571	chr7:40862763-40862764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553596445	chr7:40862786-40862787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144255668	chr7:40862807-40862808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537947784	chr7:40862972-40862973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201624198	chr7:40862985-40862986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75182141	chr7:40862986-40862987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77918995	chr7:40863001-40863002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79937442	chr7:40863096-40863097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554782059	chr7:40863129-40863130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576383371	chr7:40863158-40863159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543785407	chr7:40863176-40863177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565266803	chr7:40863182-40863183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186876491	chr7:40863218-40863219	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577316576	chr7:40863265-40863266	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541466402	chr7:40863301-40863302	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75170560	chr7:40863347-40863348	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542256791	chr7:40863382-40863383	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530282136	chr7:40863430-40863431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530215554	chr7:40863442-40863443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563570730	chr7:40863518-40863519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191319714	chr7:40863519-40863520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552493030	chr7:40863520-40863521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73689856	chr7:40863527-40863528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369601305	chr7:40863528-40863529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140674619	chr7:40863585-40863586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183127553	chr7:40863651-40863652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565621870	chr7:40863663-40863664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536374066	chr7:40863724-40863725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554463599	chr7:40863744-40863745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547601591	chr7:40863807-40863808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35953725	chr7:40863808-40863809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569905704	chr7:40863832-40863833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376790105	chr7:40863853-40863854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537298970	chr7:40863856-40863857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144930866	chr7:40863871-40863872	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:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40855200-40864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:40855600-40862400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:40855600-40866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40855800-40866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:40856400-40865200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:40857000-40863600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:40858000-40862400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:40858000-40864200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:40858200-40863400	Weak transcription	NHEK	skin
10	chr7:40858200-40863800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:40861200-40865600	Weak transcription	HSMMtube	muscle
12	chr7:40862200-40862800	Enhancers	Osteobl	bone
13	chr7:40862200-40863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:40862200-40863200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:40862200-40863200	Enhancers	Fetal Heart	heart
16	chr7:40862200-40867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:40862200-40868200	Enhancers	HMEC	breast
18	chr7:40862400-40862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:40862400-40862600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:40862400-40862600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:40862400-40862800	Enhancers	NH-A	brain
22	chr7:40862400-40863000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:40862600-40863600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:40862600-40864000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:40862600-40865200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:40862800-40863800	Weak transcription	Osteobl	bone
27	chr7:40862800-40865800	Weak transcription	NH-A	brain
28	chr7:40863000-40864200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:40863000-40864200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:40863200-40863400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:40863400-40863600	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:40863400-40866000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:40863400-40867800	Enhancers	NHEK	skin
34	chr7:40863600-40865000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:40863600-40866600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:40863600-40867600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:40863800-40865400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:40863800-40866200	Enhancers	Osteobl	bone
39	chr7:40863800-40867400	Enhancers	Aorta	Aorta
40	chr7:40864000-40869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr7:40864000-40869600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:40864000-40871000	Enhancers	NHDF-Ad	bronchial
43	chr7:40864200-40864800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:40864200-40865400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:40864200-40865800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:40864600-40866200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:40864800-40865000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:40864800-40865000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:40864800-40865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:40864800-40866600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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