Variant report

Variant	esv1837210
Chromosome Location	chr9:21700795-21729895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:21709125..21709738-chr9:21789173..21789997,3	MCF-7	breast:
2	chr9:21709315..21710109-chr9:21789136..21789898,2	MCF-7	breast:
3	chr9:21681458..21682986-chr9:21704343..21706212,2	MCF-7	breast:
4	chr11:93474769..93475337-chr9:21707894..21708478,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000166012	chromatin interactions
ENSG00000182919	chromatin interactions

Extended variants
information (count: 970 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1452658	chr9:21700795-21700796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530733496	chr9:21700802-21700803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367562445	chr9:21700809-21700810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550527855	chr9:21700902-21700903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534732805	chr9:21700914-21700915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570386856	chr9:21700923-21700924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539510235	chr9:21700925-21700926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6475549	chr9:21700927-21700928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7858959	chr9:21700932-21700933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187301763	chr9:21700947-21700948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147562017	chr9:21701003-21701004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10811584	chr9:21701005-21701006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs538575536	chr9:21701025-21701026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141989776	chr9:21701030-21701031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557167090	chr9:21701039-21701040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191337411	chr9:21701046-21701047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575585598	chr9:21701060-21701061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540621655	chr9:21701070-21701071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560341913	chr9:21701076-21701077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545710808	chr9:21701082-21701083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573810024	chr9:21701102-21701103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145856006	chr9:21701103-21701104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184666616	chr9:21701119-21701120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73649946	chr9:21701121-21701122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557946391	chr9:21701132-21701133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530698165	chr9:21701147-21701148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572921013	chr9:21701155-21701156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188730555	chr9:21701205-21701206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112925773	chr9:21701259-21701260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532751796	chr9:21701260-21701261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546591982	chr9:21701277-21701278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566546534	chr9:21701280-21701281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535574304	chr9:21701311-21701312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549584687	chr9:21701330-21701331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569514253	chr9:21701356-21701357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73435694	chr9:21701377-21701378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558118262	chr9:21701378-21701379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140218264	chr9:21701420-21701421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7848524	chr9:21701432-21701433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs6475550	chr9:21701451-21701452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371951049	chr9:21701458-21701459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10811585	chr9:21701534-21701535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150337616	chr9:21701555-21701556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561535027	chr9:21701568-21701569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138039696	chr9:21701572-21701573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545528821	chr9:21701607-21701608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6475551	chr9:21701639-21701640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs564191449	chr9:21701664-21701665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531469866	chr9:21701669-21701670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6475552	chr9:21701674-21701675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:153)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	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
Oral cancer	21386901	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
Breast cancer	21858162	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
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	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
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Multiple myeloma	17550852	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21690600-21701200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:21696600-21707000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:21699600-21707600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:21701200-21701400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:21706800-21708600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:21707000-21708800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:21707200-21708400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:21707200-21712200	Enhancers	HMEC	breast
9	chr9:21707600-21710000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:21707600-21711000	Enhancers	NHEK	skin
11	chr9:21708000-21709600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:21708200-21708600	Enhancers	HSMM	muscle
13	chr9:21708200-21709200	Enhancers	Fetal Stomach	stomach
14	chr9:21708200-21709200	Enhancers	NHDF-Ad	bronchial
15	chr9:21708200-21709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:21708200-21709400	Enhancers	HSMMtube	muscle
17	chr9:21708400-21708800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:21708400-21709200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:21708400-21709200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:21708400-21709600	Enhancers	A549	lung
21	chr9:21708400-21709600	Enhancers	Osteobl	bone
22	chr9:21708400-21713000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:21708600-21708800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:21708600-21709000	Flanking Active TSS	HSMM	muscle
25	chr9:21708800-21709000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:21708800-21709000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:21708800-21709000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:21708800-21710600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:21709000-21709200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:21709000-21709200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:21709000-21709400	Enhancers	HSMM	muscle
32	chr9:21709200-21709400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:21709200-21709800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr9:21709200-21710600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:21709200-21710600	Weak transcription	NHDF-Ad	bronchial
36	chr9:21709200-21713000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:21709400-21709600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr9:21709400-21709800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:21709400-21709800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr9:21709400-21710600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:21709400-21710800	Weak transcription	HSMM	muscle
42	chr9:21709400-21713400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:21709600-21710600	Weak transcription	Osteobl	bone
44	chr9:21709600-21710800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr9:21709600-21710800	Weak transcription	A549	lung
46	chr9:21709800-21710200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr9:21709800-21713000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr9:21710000-21710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:21710200-21710600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr9:21710400-21712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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