Variant report

Variant	esv3482994
Chromosome Location	chr9:21592184-21594742
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	chr9:21559603..21561116-chr9:21590002..21592420,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171889	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189343157	chr9:21592238-21592239	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146412989	chr9:21592280-21592281	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139818416	chr9:21592281-21592282	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564380715	chr9:21592345-21592346	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142090730	chr9:21592352-21592353	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs151182206	chr9:21592358-21592359	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367633152	chr9:21592379-21592380	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371740868	chr9:21592380-21592381	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376759644	chr9:21592381-21592382	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397738415	chr9:21592384-21592385	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs386733515	chr9:21592385-21592386	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13301369	chr9:21592386-21592387	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112816938	chr9:21592394-21592395	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537378067	chr9:21592397-21592398	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529230551	chr9:21592405-21592406	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs117489855	chr9:21592431-21592432	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559180614	chr9:21592445-21592446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs193214302	chr9:21592469-21592470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs538381234	chr9:21592479-21592480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs71334587	chr9:21592510-21592511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs398010460	chr9:21592522-21592523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184726452	chr9:21592566-21592567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188828969	chr9:21592613-21592614	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs78041547	chr9:21592623-21592624	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539638974	chr9:21592636-21592637	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs73426659	chr9:21592637-21592638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573104010	chr9:21592680-21592681	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181592015	chr9:21592720-21592721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs554992486	chr9:21592821-21592822	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541659038	chr9:21592823-21592824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs1478057	chr9:21592858-21592859	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572173984	chr9:21592865-21592866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185998981	chr9:21592867-21592868	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73652426	chr9:21592882-21592883	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs569593030	chr9:21592938-21592939	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542743021	chr9:21592975-21592976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537033302	chr9:21593014-21593015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540830956	chr9:21593024-21593025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12552336	chr9:21593056-21593057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567338823	chr9:21593073-21593074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372490490	chr9:21593104-21593105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562902304	chr9:21593133-21593134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531816380	chr9:21593201-21593202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7040437	chr9:21593204-21593205	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7023992	chr9:21593240-21593241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539220436	chr9:21593304-21593305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546779101	chr9:21593322-21593323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181451664	chr9:21593326-21593327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543382760	chr9:21593331-21593332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535783375	chr9:21593340-21593341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

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
Epilepsy	20502679	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21575800-21592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:21580000-21594800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:21589400-21592200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr9:21589600-21593000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:21590400-21592400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:21590400-21592400	Flanking Active TSS	Osteobl	bone
7	chr9:21590800-21592600	Enhancers	HSMM	muscle
8	chr9:21591200-21592200	Flanking Active TSS	Hela-S3	cervix
9	chr9:21591200-21592400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:21591200-21592600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:21591200-21593600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:21591400-21592200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:21591400-21592200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:21591400-21592400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:21591400-21592600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:21591400-21592800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:21591400-21592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:21591400-21592800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:21591400-21592800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr9:21591400-21593600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:21591400-21593600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:21591600-21592400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:21591600-21592400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:21591600-21592400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr9:21591600-21592800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:21591600-21592800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:21591800-21592200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:21591800-21592200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:21591800-21592200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:21591800-21592200	Flanking Active TSS	NHEK	skin
31	chr9:21591800-21592400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:21591800-21592400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:21591800-21592400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:21591800-21592400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:21591800-21592600	Enhancers	HMEC	breast
36	chr9:21591800-21592600	Enhancers	HSMMtube	muscle
37	chr9:21591800-21592800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:21591800-21592800	Enhancers	NHDF-Ad	bronchial
39	chr9:21591800-21592800	Enhancers	NHLF	lung
40	chr9:21591800-21593600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:21592000-21592200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:21592000-21592200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:21592000-21592200	Flanking Active TSS	NH-A	brain
44	chr9:21592000-21592400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr9:21592000-21592400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:21592000-21592600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:21592000-21592800	Enhancers	HUVEC	blood vessel
48	chr9:21592000-21593000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:21592000-21593000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:21592000-21593000	Flanking Active TSS	A549	lung

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