Variant report

Variant	nsv613927
Chromosome Location	chr9:26153793-26284317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:26237527..26239681-chr9:26241580..26243699,2	MCF-7	breast:
2	chr2:208730009..208732803-chr9:26161574..26164201,2	MCF-7	breast:
3	chr9:26237527..26239681-chr9:26241580..26243699,2	MCF-7	breast:

Extended variants
information (count: 4188 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:4188 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2571525	chr9:26153793-26153794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565376234	chr9:26153830-26153831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554718287	chr9:26153861-26153862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192466061	chr9:26153881-26153882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149024242	chr9:26153886-26153887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185697252	chr9:26153893-26153894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569725658	chr9:26153895-26153896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537270279	chr9:26153906-26153907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555539819	chr9:26153914-26153915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574186616	chr9:26153929-26153930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551977303	chr9:26153991-26153992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189375052	chr9:26154044-26154045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566695183	chr9:26154048-26154049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553395464	chr9:26154089-26154090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578095672	chr9:26154091-26154092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545356365	chr9:26154120-26154121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144824562	chr9:26154166-26154167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532620210	chr9:26154198-26154199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575708788	chr9:26154223-26154224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376407488	chr9:26154271-26154272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146727569	chr9:26154280-26154281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528944286	chr9:26154319-26154320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373613922	chr9:26154338-26154339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1434878	chr9:26154373-26154374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115437669	chr9:26154443-26154444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73645313	chr9:26154457-26154458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140563620	chr9:26154483-26154484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1434877	chr9:26154539-26154540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536800501	chr9:26154553-26154554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192216758	chr9:26154591-26154592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144495490	chr9:26158010-26158011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193263395	chr9:26158017-26158018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553804373	chr9:26158026-26158027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572197594	chr9:26158027-26158028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184121031	chr9:26158046-26158047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564300495	chr9:26158047-26158048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531751915	chr9:26158050-26158051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547336922	chr9:26158151-26158152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543721124	chr9:26158162-26158163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117784675	chr9:26158193-26158194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535169131	chr9:26158216-26158217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188468013	chr9:26158241-26158242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148019132	chr9:26158260-26158261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561126976	chr9:26158292-26158293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527382197	chr9:26158308-26158309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62544533	chr9:26158326-26158327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570326774	chr9:26158358-26158359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs719347	chr9:26158371-26158372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565282933	chr9:26158435-26158436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555999737	chr9:26158438-26158439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26151400-26154200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr9:26151400-26154600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:26152000-26154000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:26152200-26153800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:26158000-26158200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:26158000-26161800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:26158400-26159600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:26158400-26161600	Enhancers	NHDF-Ad	bronchial
9	chr9:26158600-26160200	Enhancers	HSMMtube	muscle
10	chr9:26158600-26160400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr9:26159600-26160600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:26159800-26160400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:26160600-26164400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:26161600-26163600	Weak transcription	NHDF-Ad	bronchial
15	chr9:26161800-26163600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:26163600-26164400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:26163600-26165000	Enhancers	NHDF-Ad	bronchial
18	chr9:26163800-26164600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:26164000-26164600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:26164200-26164800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:26164400-26164600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:26164400-26164800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:26164400-26165200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:26164600-26164800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:26164600-26169200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:26164600-26169200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:26164800-26165000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:26164800-26169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:26165000-26165400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:26165400-26167800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:26166000-26166200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:26166400-26169800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr9:26167800-26168200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:26168000-26168200	Enhancers	HMEC	breast
35	chr9:26168200-26168400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:26168200-26169600	Enhancers	NHDF-Ad	bronchial
37	chr9:26168400-26168600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:26168400-26169600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:26168600-26172200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:26169000-26171600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr9:26169200-26170000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:26169200-26170000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:26169200-26170200	Enhancers	A549	lung
44	chr9:26169200-26175600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:26169400-26171000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:26169600-26169800	Flanking Active TSS	NHDF-Ad	bronchial
47	chr9:26169600-26170000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:26169600-26170600	Enhancers	NHEK	skin
49	chr9:26169600-26170800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:26169600-26170800	Enhancers	Hela-S3	cervix

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