Variant report

Variant	nsv442155
Chromosome Location	chr9:79122348-79125310
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	chr9:79124487..79126454-chr9:79129345..79131796,2	MCF-7	breast:
2	chr9:79114955..79117396-chr9:79123792..79125800,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186149124	chr9:79122358-79122359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115585305	chr9:79122373-79122374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538608457	chr9:79122376-79122377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558573819	chr9:79122384-79122385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545556142	chr9:79122441-79122442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190467153	chr9:79122455-79122456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372941202	chr9:79122520-79122521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554408402	chr9:79122558-79122559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs811488	chr9:79122567-79122568	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542859070	chr9:79122578-79122579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183372898	chr9:79122591-79122592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148680861	chr9:79122613-79122614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114684410	chr9:79122620-79122621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188063080	chr9:79122624-79122625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143492042	chr9:79122642-79122643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115065850	chr9:79122686-79122687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146711293	chr9:79122719-79122720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs804781	chr9:79122755-79122756	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111238995	chr9:79122772-79122773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190982471	chr9:79122773-79122774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569929643	chr9:79122798-79122799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140338939	chr9:79122818-79122819	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72730604	chr9:79122871-79122872	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549534691	chr9:79122877-79122878	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139846936	chr9:79122878-79122879	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565671186	chr9:79122897-79122898	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5898484	chr9:79122953-79122954	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397727580	chr9:79122961-79122962	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77535875	chr9:79122962-79122963	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116612407	chr9:79122971-79122972	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2147266	chr9:79122990-79122991	Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568087269	chr9:79122993-79122994	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116907577	chr9:79123016-79123017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556321953	chr9:79123023-79123024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57209521	chr9:79123089-79123090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58706588	chr9:79123156-79123157	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1547139	chr9:79123172-79123173	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1547140	chr9:79123201-79123202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs572365699	chr9:79123230-79123231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17778377	chr9:79123231-79123232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs561404195	chr9:79123286-79123287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370039458	chr9:79123293-79123294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182690817	chr9:79123294-79123295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375276881	chr9:79123334-79123335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145500500	chr9:79123345-79123346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187766384	chr9:79123359-79123360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532389421	chr9:79123378-79123379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552459625	chr9:79123450-79123451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559394603	chr9:79123456-79123457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76137963	chr9:79123458-79123459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
2	chr9:79114400-79122800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:79115000-79122600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:79118400-79122800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:79118600-79122600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:79118600-79123200	Strong transcription	Osteobl	bone
7	chr9:79118600-79126200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:79118600-79134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:79118800-79124600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:79118800-79125200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:79118800-79125200	Weak transcription	NHDF-Ad	bronchial
12	chr9:79118800-79127600	Weak transcription	HSMMtube	muscle
13	chr9:79118800-79136400	Weak transcription	Gastric	stomach
14	chr9:79118800-79145800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr9:79119000-79122400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:79119000-79123000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:79119000-79123200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:79119000-79125200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:79119200-79124800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:79119200-79125200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:79119200-79125200	Weak transcription	NHLF	lung
22	chr9:79119200-79127800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:79119200-79134000	Weak transcription	Fetal Intestine Small	intestine
24	chr9:79119600-79122600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:79119800-79123800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:79119800-79130400	Weak transcription	Primary B cells from cord blood	blood
27	chr9:79119800-79132200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr9:79120000-79127600	Weak transcription	HMEC	breast
29	chr9:79120400-79124200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:79120400-79134000	Weak transcription	Fetal Intestine Large	intestine
31	chr9:79120400-79145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:79120600-79128000	Weak transcription	HSMM	muscle
33	chr9:79120600-79131000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:79120800-79131200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr9:79120800-79131400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:79121000-79127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:79121400-79123800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:79122000-79124800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:79122400-79122600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr9:79122600-79131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:79122800-79123000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr9:79122800-79125000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:79123200-79125200	Weak transcription	Osteobl	bone
44	chr9:79123800-79124400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:79123800-79125600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr9:79124400-79125200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:79124800-79125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:79125000-79126200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:79125200-79125400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr9:79125200-79125600	Enhancers	Osteobl	bone

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