Variant report

Variant	esv3414265
Chromosome Location	chr2:30732307-30733282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30733241..30735304-chr2:30736147..30738560,2	MCF-7	breast:
2	chr2:30730220..30735508-chr2:30883142..30886584,5	K562	blood:
3	chr2:30721513..30724464-chr2:30730002..30732405,2	K562	blood:
4	chr2:30732905..30735553-chr2:30837081..30838808,2	K562	blood:
5	chr2:30727663..30729408-chr2:30731919..30733785,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544239512	chr2:30732310-30732311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138323221	chr2:30732320-30732321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372397123	chr2:30732333-30732334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142930404	chr2:30732343-30732344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146128603	chr2:30732397-30732398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180747555	chr2:30732437-30732438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531196453	chr2:30732439-30732440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372242123	chr2:30732440-30732441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78535311	chr2:30732450-30732451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1252636	chr2:30732475-30732476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1880539	chr2:30732479-30732480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs568208520	chr2:30732487-30732488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140148546	chr2:30732493-30732494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1252637	chr2:30732557-30732558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570705799	chr2:30732560-30732561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548702754	chr2:30732628-30732629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539376146	chr2:30732660-30732661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539067931	chr2:30732680-30732681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553100148	chr2:30732691-30732692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377419539	chr2:30732718-30732719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572954461	chr2:30732736-30732737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535310243	chr2:30732798-30732799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59210342	chr2:30732820-30732821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575365811	chr2:30732845-30732846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544178659	chr2:30732846-30732847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144425942	chr2:30732889-30732890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375305280	chr2:30732890-30732891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75009795	chr2:30732928-30732929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570530360	chr2:30732947-30732948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75774728	chr2:30732948-30732949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111515606	chr2:30732987-30732988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79821013	chr2:30732997-30732998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191918820	chr2:30733054-30733055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138991787	chr2:30733196-30733197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530653587	chr2:30733237-30733238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
2	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:30724000-30732600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:30724200-30733400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:30724200-30733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:30724200-30734000	Weak transcription	Ovary	ovary
7	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:30726200-30732400	Weak transcription	Left Ventricle	heart
10	chr2:30726200-30734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
12	chr2:30726400-30733400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:30726400-30733800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:30726400-30734200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
16	chr2:30727000-30734400	Weak transcription	Psoas Muscle	Psoas
17	chr2:30727800-30732600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:30727800-30732800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:30727800-30734000	Weak transcription	Right Atrium	heart
20	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:30728000-30739200	Weak transcription	Thymus	Thymus
22	chr2:30728200-30732800	Weak transcription	NHDF-Ad	bronchial
23	chr2:30728200-30733400	Weak transcription	Fetal Stomach	stomach
24	chr2:30728600-30734400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:30728800-30733000	Weak transcription	Fetal Lung	lung
26	chr2:30728800-30733200	Weak transcription	NHLF	lung
27	chr2:30729000-30732800	Weak transcription	Small Intestine	intestine
28	chr2:30729000-30733000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:30729000-30733200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:30729000-30734000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:30729000-30737600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:30729000-30741200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:30729800-30732400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:30729800-30732400	Weak transcription	HepG2	liver
36	chr2:30729800-30736800	Weak transcription	Liver	Liver
37	chr2:30731000-30732800	Weak transcription	Primary T cells from cord blood	blood
38	chr2:30731600-30734600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:30732000-30738400	Enhancers	K562	blood
40	chr2:30732000-30739400	Enhancers	Fetal Heart	heart
41	chr2:30732200-30735000	Enhancers	HSMMtube	muscle
42	chr2:30732400-30733000	Enhancers	Left Ventricle	heart
43	chr2:30732400-30733800	Enhancers	HepG2	liver
44	chr2:30732400-30735400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:30732600-30732800	Enhancers	Fetal Muscle Leg	muscle
46	chr2:30732600-30732800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:30732600-30733000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:30732600-30733000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr2:30732600-30733200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:30732600-30733400	Enhancers	A549	lung

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