Variant report

Variant	esv2625322
Chromosome Location	chr2:231243375-231244879
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	chr2:231235932..231237817-chr2:231243056..231245722,2	K562	blood:
2	chr2:231232811..231234963-chr2:231243502..231245395,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547969181	chr2:231243376-231243377	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76081557	chr2:231243501-231243502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190152265	chr2:231243546-231243547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11902380	chr2:231243630-231243631	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs181638151	chr2:231243681-231243682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11902383	chr2:231243684-231243685	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149744821	chr2:231243707-231243708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12694853	chr2:231243733-231243734	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs575993289	chr2:231243738-231243739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111575785	chr2:231243778-231243779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10933334	chr2:231243788-231243789	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185486903	chr2:231243818-231243819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189968956	chr2:231243846-231243847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564901261	chr2:231243884-231243885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576737217	chr2:231243897-231243898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11693767	chr2:231243953-231243954	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs80102346	chr2:231243963-231243964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536638544	chr2:231243996-231243997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12694854	chr2:231244006-231244007	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs181137493	chr2:231244012-231244013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559872175	chr2:231244063-231244064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11886974	chr2:231244106-231244107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13025664	chr2:231244112-231244113	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs571630053	chr2:231244131-231244132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538690990	chr2:231244161-231244162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1609427	chr2:231244163-231244164	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs569618136	chr2:231244168-231244169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185181677	chr2:231244191-231244192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528108211	chr2:231244249-231244250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1968342	chr2:231244291-231244292	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs145723231	chr2:231244299-231244300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191014735	chr2:231244312-231244313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184048971	chr2:231244363-231244364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1968341	chr2:231244389-231244390	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1968340	chr2:231244434-231244435	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs57144864	chr2:231244477-231244478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574397890	chr2:231244485-231244486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376362720	chr2:231244487-231244488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188884409	chr2:231244499-231244500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560314745	chr2:231244500-231244501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386656122	chr2:231244502-231244503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55921089	chr2:231244506-231244507	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs565263392	chr2:231244508-231244509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532648913	chr2:231244596-231244597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191582350	chr2:231244631-231244632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569235890	chr2:231244661-231244662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6738146	chr2:231244676-231244677	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs6738151	chr2:231244684-231244685	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs567072271	chr2:231244701-231244702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534164223	chr2:231244721-231244722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Chronic lymphocytic leukemia	21546498	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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231212800-231253600	Weak transcription	Gastric	stomach
2	chr2:231212800-231253600	Weak transcription	HMEC	breast
3	chr2:231212800-231259200	Weak transcription	Small Intestine	intestine
4	chr2:231212800-231262400	Weak transcription	K562	blood
5	chr2:231220000-231275800	Weak transcription	Stomach Mucosa	stomach
6	chr2:231222200-231253400	Weak transcription	Colonic Mucosa	Colon
7	chr2:231222200-231273200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:231223200-231253600	Weak transcription	NHLF	lung
9	chr2:231223400-231257800	Weak transcription	NH-A	brain
10	chr2:231223600-231263600	Weak transcription	Fetal Kidney	kidney
11	chr2:231224200-231254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:231225200-231268000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:231225600-231244600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:231226600-231245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:231226600-231253800	Weak transcription	Fetal Stomach	stomach
16	chr2:231226800-231249800	Weak transcription	Lung	lung
17	chr2:231226800-231253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:231226800-231253600	Weak transcription	Pancreas	Pancrea
19	chr2:231227000-231251400	Weak transcription	HSMMtube	muscle
20	chr2:231228800-231260000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:231228800-231275600	Weak transcription	Psoas Muscle	Psoas
22	chr2:231231400-231243600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:231231600-231246600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:231232200-231260400	Weak transcription	Fetal Lung	lung
25	chr2:231232400-231243400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:231234200-231249600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:231234200-231253600	Weak transcription	Esophagus	oesophagus
28	chr2:231234200-231274400	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:231234400-231259400	Weak transcription	Fetal Intestine Small	intestine
30	chr2:231235800-231243800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:231235800-231245800	Weak transcription	Spleen	Spleen
32	chr2:231236000-231251600	Weak transcription	NHDF-Ad	bronchial
33	chr2:231236800-231249400	Weak transcription	Aorta	Aorta
34	chr2:231236800-231250200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:231236800-231251600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:231236800-231260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:231237000-231245600	Weak transcription	Placenta	Placenta
38	chr2:231237000-231249200	Weak transcription	Fetal Intestine Large	intestine
39	chr2:231237000-231249800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:231237000-231249800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:231237000-231251800	Weak transcription	HUVEC	blood vessel
42	chr2:231237000-231253600	Weak transcription	GM12878-XiMat	blood
43	chr2:231237000-231264800	Weak transcription	HepG2	liver
44	chr2:231237200-231246000	Weak transcription	Thymus	Thymus
45	chr2:231237200-231249400	Weak transcription	Fetal Thymus	thymus
46	chr2:231237200-231264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:231238000-231253800	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:231238200-231245600	Weak transcription	Adipose Nuclei	Adipose
49	chr2:231238200-231249400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:231238200-231253600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links