Variant report

Variant	esv3449150
Chromosome Location	chr2:30912297-30912770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30911934..30915196-chr2:30916414..30919357,3	K562	blood:
2	chr2:30905573..30907346-chr2:30910790..30912368,2	MCF-7	breast:
3	chr2:30901810..30903699-chr2:30911244..30913878,2	MCF-7	breast:
4	chr2:30907810..30910033-chr2:30912407..30915390,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181300870	chr2:30912311-30912312	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550915190	chr2:30912320-30912321	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370685167	chr2:30912341-30912342	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538626243	chr2:30912347-30912348	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143000859	chr2:30912417-30912418	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs72613836	chr2:30912423-30912424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377001299	chr2:30912452-30912453	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374211554	chr2:30912479-30912480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs185081909	chr2:30912487-30912488	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370027725	chr2:30912506-30912507	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565997905	chr2:30912527-30912528	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs535467074	chr2:30912539-30912540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548995393	chr2:30912546-30912547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568935018	chr2:30912550-30912551	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62142173	chr2:30912563-30912564	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577772196	chr2:30912570-30912571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189047326	chr2:30912618-30912619	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534448296	chr2:30912635-30912636	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552780565	chr2:30912710-30912711	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114648249	chr2:30912737-30912738	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77546903	chr2:30912749-30912750	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150215919	chr2:30912750-30912751	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30902600-30915600	Weak transcription	NHDF-Ad	bronchial
3	chr2:30908200-30912400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:30908200-30915600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:30908600-30913400	Enhancers	Left Ventricle	heart
6	chr2:30910600-30918200	Enhancers	Right Ventricle	heart
7	chr2:30911200-30912400	Enhancers	Fetal Heart	heart
8	chr2:30911200-30912600	Enhancers	Fetal Brain Female	brain
9	chr2:30911200-30912600	Enhancers	Fetal Lung	lung
10	chr2:30911200-30912800	Enhancers	Brain Germinal Matrix	brain
11	chr2:30911200-30913400	Enhancers	HSMMtube	muscle
12	chr2:30911600-30913400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:30911600-30913400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr2:30911600-30913400	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:30911600-30913400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:30911800-30912400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:30911800-30912400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:30911800-30912400	Enhancers	Fetal Stomach	stomach
19	chr2:30911800-30912600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:30911800-30912600	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:30911800-30912800	Enhancers	Fetal Kidney	kidney
22	chr2:30911800-30912800	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:30911800-30913000	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr2:30911800-30913400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:30911800-30913400	Enhancers	Lung	lung
26	chr2:30911800-30913400	Enhancers	Psoas Muscle	Psoas
27	chr2:30911800-30913400	Enhancers	Right Atrium	heart
28	chr2:30911800-30913600	Enhancers	Ovary	ovary
29	chr2:30911800-30913800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:30911800-30914600	Enhancers	Aorta	Aorta
31	chr2:30912000-30912400	Flanking Active TSS	Fetal Brain Male	brain
32	chr2:30912000-30912800	Enhancers	Spleen	Spleen
33	chr2:30912000-30913200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr2:30912000-30913400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:30912000-30914000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:30912200-30913400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:30912200-30913400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:30912400-30912600	Enhancers	Primary B cells from cord blood	blood
39	chr2:30912400-30912600	Flanking Active TSS	Fetal Heart	heart
40	chr2:30912400-30912800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:30912400-30913000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:30912600-30912800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:30912600-30912800	Enhancers	Fetal Heart	heart
44	chr2:30912600-30915800	Weak transcription	Primary B cells from cord blood	blood
45	chr2:30912600-30916800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:30912600-30917200	Weak transcription	Fetal Lung	lung

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