Variant report

Variant	nsv933457
Chromosome Location	chr8:100309191-100330433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100329098..100330856-chr8:100331177..100332983,2	MCF-7	breast:
2	chr8:100323481..100327206-chr8:100331154..100333171,3	MCF-7	breast:
3	chr8:100327325..100329198-chr8:100340079..100342358,2	MCF-7	breast:

Extended variants
information (count: 825 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:825 , 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	rs77947347	chr8:100309229-100309230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112165288	chr8:100309235-100309236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553662866	chr8:100309279-100309280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144181844	chr8:100309333-100309334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7826570	chr8:100309474-100309475	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191170370	chr8:100309492-100309493	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146636549	chr8:100309493-100309494	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181518862	chr8:100309512-100309513	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186692286	chr8:100309569-100309570	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564648620	chr8:100309570-100309571	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs527361259	chr8:100309605-100309606	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547489728	chr8:100309610-100309611	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34820957	chr8:100309615-100309616	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552290766	chr8:100309638-100309639	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566969968	chr8:100309755-100309756	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139948992	chr8:100309762-100309763	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10644296	chr8:100309763-100309764	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35255172	chr8:100309764-100309765	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56363659	chr8:100309765-100309766	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141396453	chr8:100309788-100309789	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542574445	chr8:100309823-100309824	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528093667	chr8:100309829-100309830	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569527433	chr8:100309926-100309927	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56229504	chr8:100309927-100309928	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7001154	chr8:100309930-100309931	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs571434860	chr8:100309934-100309935	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534048452	chr8:100310031-100310032	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73699986	chr8:100310083-100310084	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375005138	chr8:100310109-100310110	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573762676	chr8:100310141-100310142	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190511579	chr8:100310239-100310240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536444974	chr8:100310297-100310298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80321801	chr8:100310308-100310309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576390906	chr8:100310328-100310329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545051859	chr8:100310334-100310335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564897762	chr8:100310338-100310339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572038802	chr8:100310414-100310415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34437594	chr8:100310427-100310428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142452001	chr8:100310438-100310439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560994213	chr8:100310444-100310445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529506965	chr8:100310465-100310466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549542240	chr8:100310467-100310468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138909421	chr8:100310488-100310489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531860560	chr8:100310511-100310512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570305568	chr8:100310519-100310520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371924195	chr8:100310523-100310524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183116141	chr8:100310541-100310542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199732261	chr8:100310546-100310547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571321699	chr8:100310564-100310565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34240448	chr8:100310633-100310634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100284600-100312000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:100286800-100314000	Weak transcription	HSMM	muscle
3	chr8:100291800-100314400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:100292000-100315800	Weak transcription	Ovary	ovary
5	chr8:100294400-100316400	Weak transcription	Primary B cells from cord blood	blood
6	chr8:100299200-100313800	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:100299400-100309400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:100299400-100309400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:100299400-100309800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:100302000-100310000	Weak transcription	NHLF	lung
11	chr8:100302400-100315800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:100303200-100315800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:100305200-100318400	Weak transcription	Fetal Kidney	kidney
14	chr8:100308800-100310200	Enhancers	NHDF-Ad	bronchial
15	chr8:100309000-100309400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:100309000-100309600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:100309000-100309800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:100309000-100309800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:100309200-100309600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:100309400-100309600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:100309400-100309600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:100309400-100309600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:100309400-100310200	Enhancers	Osteobl	bone
24	chr8:100309600-100309800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:100309600-100309800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:100309600-100310200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:100309600-100312800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:100309800-100310000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:100309800-100310000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:100309800-100310200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:100309800-100310200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:100309800-100310200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr8:100310000-100310200	Enhancers	NHLF	lung
34	chr8:100310000-100310400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:100310000-100310400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:100310200-100310400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:100310200-100312400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:100310400-100312200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:100310400-100325600	Weak transcription	Fetal Stomach	stomach
40	chr8:100311200-100311400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:100311800-100313600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:100312000-100312800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:100312200-100313600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:100312400-100313000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:100312800-100313400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:100313600-100315600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:100314400-100314600	Enhancers	Colon Smooth Muscle	Colon
48	chr8:100314600-100318600	Weak transcription	Fetal Lung	lung
49	chr8:100315400-100316200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr8:100315600-100315800	Active TSS	Monocytes-CD14+_RO01746	blood

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