Variant report

Variant	esv3369576
Chromosome Location	chr3:69044262-69047360
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	chr3:69045307..69047583-chr3:69050461..69052374,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163378	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555662838	chr3:69044268-69044269	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138649252	chr3:69044324-69044325	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534887150	chr3:69044325-69044326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558006564	chr3:69044353-69044354	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555949904	chr3:69044368-69044369	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577867879	chr3:69044381-69044382	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372726894	chr3:69044395-69044396	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9857339	chr3:69044396-69044397	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556683396	chr3:69044426-69044427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115472293	chr3:69044470-69044471	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35119307	chr3:69044488-69044489	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540334509	chr3:69044524-69044525	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9840292	chr3:69044527-69044528	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559947932	chr3:69044529-69044530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183263311	chr3:69044533-69044534	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149336124	chr3:69044534-69044535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564342261	chr3:69044570-69044571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533341402	chr3:69044584-69044585	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549513899	chr3:69044585-69044586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569629829	chr3:69044586-69044587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528918187	chr3:69044595-69044596	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112272916	chr3:69044607-69044608	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565644500	chr3:69044633-69044634	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534921284	chr3:69044634-69044635	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558045723	chr3:69044658-69044659	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571506319	chr3:69044682-69044683	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113380929	chr3:69044698-69044699	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6549169	chr3:69044784-69044785	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs62254189	chr3:69044828-69044829	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548153911	chr3:69044901-69044902	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114835032	chr3:69044924-69044925	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572357652	chr3:69045014-69045015	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541333676	chr3:69045039-69045040	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555851119	chr3:69045068-69045069	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564437878	chr3:69045086-69045087	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191455056	chr3:69045087-69045088	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182433839	chr3:69045148-69045149	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144612403	chr3:69045158-69045159	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187948832	chr3:69045160-69045161	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529003032	chr3:69045177-69045178	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192445943	chr3:69045192-69045193	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375685264	chr3:69045203-69045204	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143213459	chr3:69045227-69045228	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185038054	chr3:69045280-69045281	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528080769	chr3:69045300-69045301	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551743247	chr3:69045339-69045340	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537655618	chr3:69045345-69045346	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148471023	chr3:69045417-69045418	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550516641	chr3:69045437-69045438	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563136061	chr3:69045466-69045467	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69019600-69061800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:69021400-69061600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:69021600-69048200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:69023000-69047400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:69023600-69045800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:69023800-69057000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:69024200-69057800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:69024800-69045200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:69024800-69061600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:69024800-69061800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:69025200-69044600	Weak transcription	Fetal Heart	heart
12	chr3:69025200-69047200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:69025200-69058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:69025200-69062000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:69025400-69057800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:69025600-69045800	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:69028200-69061400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:69030400-69061400	Weak transcription	Stomach Mucosa	stomach
19	chr3:69035200-69046200	Weak transcription	Fetal Brain Male	brain
20	chr3:69036200-69061200	Weak transcription	Fetal Thymus	thymus
21	chr3:69036200-69061400	Weak transcription	A549	lung
22	chr3:69036400-69061600	Weak transcription	Fetal Kidney	kidney
23	chr3:69037000-69044600	Weak transcription	K562	blood
24	chr3:69037000-69046200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:69037000-69061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:69037000-69061600	Weak transcription	GM12878-XiMat	blood
27	chr3:69037000-69062000	Weak transcription	Primary T cells from cord blood	blood
28	chr3:69037000-69062200	Weak transcription	Small Intestine	intestine
29	chr3:69037200-69048400	Weak transcription	Psoas Muscle	Psoas
30	chr3:69037600-69062000	Weak transcription	Primary B cells from cord blood	blood
31	chr3:69039000-69045600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:69039400-69045600	Strong transcription	Left Ventricle	heart
33	chr3:69039600-69048200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:69039600-69048200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:69039600-69056400	Strong transcription	HUVEC	blood vessel
36	chr3:69039600-69056800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:69039800-69057600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:69040000-69045600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:69040000-69057200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:69040400-69045600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr3:69040600-69045000	Strong transcription	Brain Anterior Caudate	brain
42	chr3:69040600-69045200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:69040600-69047000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:69040600-69060400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:69040800-69045000	Strong transcription	Right Ventricle	heart
46	chr3:69040800-69047200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:69040800-69047400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:69040800-69049400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:69041200-69046000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:69041200-69047800	Strong transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links