Variant report

Variant	nsv877578
Chromosome Location	chr3:144734068-144843921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
2	chr11:39310342..39312522-chr3:144736797..144739466,2	MCF-7	breast:
3	chr3:144801248..144803452-chr3:144804044..144806004,2	MCF-7	breast:
4	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
5	chr3:144801248..144803452-chr3:144804044..144806004,2	MCF-7	breast:

Extended variants
information (count: 1379 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1379 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9859874	chr3:144734068-144734069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531554158	chr3:144734133-144734134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550074031	chr3:144734143-144734144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527758070	chr3:144734214-144734215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78569851	chr3:144734227-144734228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188520060	chr3:144734241-144734242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192943922	chr3:144734248-144734249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375127432	chr3:144734284-144734285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377190295	chr3:144734286-144734287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12490662	chr3:144734314-144734315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551134769	chr3:144734329-144734330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185396862	chr3:144734330-144734331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7427634	chr3:144734343-144734344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555714002	chr3:144734379-144734380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573954459	chr3:144734410-144734411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149650115	chr3:144734421-144734422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553124577	chr3:144734437-144734438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572495106	chr3:144734506-144734507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140546102	chr3:144734520-144734521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546281551	chr3:144734623-144734624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377054690	chr3:144734718-144734719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576046602	chr3:144734733-144734734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386666684	chr3:144734751-144734752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62276309	chr3:144734753-144734754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529526618	chr3:144734773-144734774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6785117	chr3:144734790-144734791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188481867	chr3:144734796-144734797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181326984	chr3:144734817-144734818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551465323	chr3:144734825-144734826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6772135	chr3:144734831-144734832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537063752	chr3:144734840-144734841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561374896	chr3:144734881-144734882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112093815	chr3:144734904-144734905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60280566	chr3:144734949-144734950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112052203	chr3:144734984-144734985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534913310	chr3:144734988-144734989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552945757	chr3:144735003-144735004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577779688	chr3:144735017-144735018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538423751	chr3:144735019-144735020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199754900	chr3:144735022-144735023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200707279	chr3:144735023-144735024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113598991	chr3:144735028-144735029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200183390	chr3:144735031-144735032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56846966	chr3:144735032-144735033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558255631	chr3:144735045-144735046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76942544	chr3:144735048-144735049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150782074	chr3:144735049-144735050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547259024	chr3:144735094-144735095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543444290	chr3:144735105-144735106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139138530	chr3:144735108-144735109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144730200-144736400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:144733000-144735400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:144733600-144734800	Enhancers	NHEK	skin
4	chr3:144733800-144734600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:144733800-144734800	Enhancers	HMEC	breast
6	chr3:144733800-144734800	Enhancers	HUVEC	blood vessel
7	chr3:144734000-144734600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:144734600-144735400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:144734800-144735200	Weak transcription	HMEC	breast
10	chr3:144734800-144736600	Weak transcription	NHEK	skin
11	chr3:144735200-144735400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:144735200-144735400	Enhancers	HMEC	breast
13	chr3:144735400-144736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:144735400-144736600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:144735400-144736800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:144735400-144736800	Weak transcription	HMEC	breast
17	chr3:144736200-144737000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:144736200-144737200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:144736400-144737400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:144736600-144737000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:144736600-144737400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:144736600-144737600	Enhancers	NHEK	skin
23	chr3:144736800-144737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:144736800-144737200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:144736800-144737200	Enhancers	HMEC	breast
26	chr3:144738400-144739600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr3:144751000-144752400	Enhancers	HUVEC	blood vessel
28	chr3:144751600-144752000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:144752200-144752600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:144779000-144781600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:144779800-144780600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:144779800-144780600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:144790800-144791200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:144795200-144796200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:144795400-144796800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:144795600-144796200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:144797000-144797600	Enhancers	Fetal Brain Female	brain
38	chr3:144803200-144805200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:144803800-144805000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:144803800-144806000	Enhancers	Fetal Heart	heart
41	chr3:144804000-144804400	Enhancers	Primary hematopoietic stem cells	blood
42	chr3:144804000-144804400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:144804000-144805200	Enhancers	Primary B cells from cord blood	blood
44	chr3:144805000-144806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:144805200-144806400	Weak transcription	Primary B cells from cord blood	blood
46	chr3:144806000-144811000	Weak transcription	Fetal Heart	heart
47	chr3:144806200-144807000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr3:144806400-144807400	Enhancers	Primary B cells from cord blood	blood
49	chr3:144806600-144807000	Enhancers	Primary B cells from peripheral blood	blood
50	chr3:144807000-144812200	Weak transcription	Primary B cells from peripheral blood	blood

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