Variant report

Variant	nsv527319
Chromosome Location	chr2:231492816-231501467
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	chr2:231500189..231501734-chr2:231506652..231509496,2	K562	blood:
2	chr2:231500020..231501734-chr2:231507996..231510394,2	K562	blood:

Extended variants
information (count: 304 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10192285	chr2:231492816-231492817	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544857760	chr2:231492830-231492831	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs182142346	chr2:231492860-231492861	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs10168790	chr2:231492965-231492966	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs113774846	chr2:231492984-231492985	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs139571704	chr2:231493007-231493008	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs76295013	chr2:231493013-231493014	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs11681644	chr2:231493060-231493061	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566234636	chr2:231493093-231493094	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs76940580	chr2:231493110-231493111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs72991529	chr2:231493120-231493121	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570352043	chr2:231493121-231493122	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs537782539	chr2:231493197-231493198	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs147621418	chr2:231493231-231493232	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76893671	chr2:231493240-231493241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77512168	chr2:231493241-231493242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs181110332	chr2:231493261-231493262	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577764126	chr2:231493265-231493266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185365569	chr2:231493276-231493277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556288236	chr2:231493279-231493280	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10169182	chr2:231493293-231493294	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs568824643	chr2:231493312-231493313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575176101	chr2:231493346-231493347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11885648	chr2:231493425-231493426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560689098	chr2:231493447-231493448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190911505	chr2:231493454-231493455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140812326	chr2:231493485-231493486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11885764	chr2:231493489-231493490	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs58535872	chr2:231493513-231493514	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563900493	chr2:231493514-231493515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531083658	chr2:231493518-231493519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549664905	chr2:231493526-231493527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531469477	chr2:231493535-231493536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567511390	chr2:231493586-231493587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180795875	chr2:231493589-231493590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187628437	chr2:231493620-231493621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191942426	chr2:231493636-231493637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150176399	chr2:231493649-231493650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35694673	chr2:231493716-231493717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145607358	chr2:231493720-231493721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57713836	chr2:231493730-231493731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs61488557	chr2:231493734-231493735	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554849022	chr2:231493771-231493772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573100199	chr2:231493793-231493794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527398075	chr2:231493797-231493798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540212214	chr2:231493808-231493809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148941425	chr2:231493812-231493813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576990872	chr2:231493821-231493822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544345768	chr2:231493838-231493839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552529440	chr2:231493842-231493843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231472800-231497200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:231481800-231493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:231492400-231493400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:231492400-231493400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:231492600-231493200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:231492600-231493200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:231492600-231493200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:231492600-231493400	Enhancers	Esophagus	oesophagus
9	chr2:231492600-231493400	Enhancers	Fetal Heart	heart
10	chr2:231492600-231493400	Enhancers	Pancreas	Pancrea
11	chr2:231492600-231493400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:231492600-231493400	Flanking Active TSS	K562	blood
13	chr2:231492800-231493000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:231492800-231493200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:231492800-231493200	Enhancers	Primary T cells from cord blood	blood
16	chr2:231492800-231493200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:231492800-231493200	Enhancers	Fetal Thymus	thymus
18	chr2:231492800-231493200	Enhancers	A549	lung
19	chr2:231492800-231493200	Enhancers	Hela-S3	cervix
20	chr2:231492800-231493200	Bivalent Enhancer	HepG2	liver
21	chr2:231492800-231493200	Enhancers	HSMMtube	muscle
22	chr2:231492800-231493200	Enhancers	NH-A	brain
23	chr2:231492800-231493400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:231492800-231493400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:231492800-231493400	Enhancers	NHDF-Ad	bronchial
26	chr2:231492800-231493400	Enhancers	NHLF	lung
27	chr2:231492800-231493600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:231492800-231493600	Enhancers	Fetal Lung	lung
29	chr2:231492800-231493600	Enhancers	Stomach Mucosa	stomach
30	chr2:231492800-231494200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:231493000-231493200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:231493000-231493200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:231493000-231494200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:231493000-231494400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:231493200-231493400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:231493200-231493400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:231493200-231493400	Enhancers	Lung	lung
38	chr2:231493400-231493600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:231493400-231493600	Enhancers	K562	blood
40	chr2:231493400-231497000	Weak transcription	Pancreas	Pancrea
41	chr2:231497000-231497200	Enhancers	Pancreas	Pancrea
42	chr2:231497200-231497400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:231499000-231499200	Enhancers	GM12878-XiMat	blood
44	chr2:231499400-231500600	Weak transcription	GM12878-XiMat	blood
45	chr2:231500600-231500800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:231500600-231501400	Enhancers	GM12878-XiMat	blood
47	chr2:231500600-231502200	Enhancers	Primary B cells from peripheral blood	blood
48	chr2:231500600-231502200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:231500800-231507000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:231501000-231502000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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