Variant report

Variant	esv20995
Chromosome Location	chr2:231429759-231430386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373895861	chr2:231429761-231429762	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs61329403	chr2:231429762-231429763	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs58982039	chr2:231429792-231429793	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142303813	chr2:231429819-231429820	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568002658	chr2:231429838-231429839	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4246644	chr2:231429864-231429865	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533329666	chr2:231429868-231429869	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186762876	chr2:231429874-231429875	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62195510	chr2:231429905-231429906	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557280332	chr2:231429909-231429910	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144352400	chr2:231429924-231429925	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4973332	chr2:231429928-231429929	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76452399	chr2:231429929-231429930	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537276126	chr2:231429943-231429944	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555539014	chr2:231429949-231429950	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567065985	chr2:231429956-231429957	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145973356	chr2:231429961-231429962	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17354508	chr2:231429977-231429978	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs568828668	chr2:231430007-231430008	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529775338	chr2:231430019-231430020	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7575130	chr2:231430058-231430059	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77669061	chr2:231430074-231430075	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113895290	chr2:231430090-231430091	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557318542	chr2:231430166-231430167	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7561174	chr2:231430177-231430178	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7561410	chr2:231430245-231430246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs80032159	chr2:231430248-231430249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7561418	chr2:231430266-231430267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541187308	chr2:231430272-231430273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563653620	chr2:231430326-231430327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7587870	chr2:231430384-231430385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231401000-231430200	Weak transcription	Pancreas	Pancrea
2	chr2:231429000-231429800	Enhancers	K562	blood
3	chr2:231429000-231430600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:231429000-231430600	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:231429400-231429800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr2:231429400-231429800	Flanking Active TSS	GM12878-XiMat	blood
7	chr2:231429400-231430200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr2:231429400-231430600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:231429400-231430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:231429400-231431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:231429600-231429800	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr2:231429600-231430400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:231429600-231430400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:231429600-231430400	Enhancers	Fetal Thymus	thymus
15	chr2:231429600-231430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:231429800-231430200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:231429800-231430600	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:231429800-231430600	Enhancers	GM12878-XiMat	blood
19	chr2:231429800-231431000	Enhancers	Primary B cells from cord blood	blood
20	chr2:231430000-231430400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:231430000-231430400	Enhancers	Psoas Muscle	Psoas
22	chr2:231430200-231430400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:231430200-231430400	Enhancers	Pancreas	Pancrea
24	chr2:231430200-231430600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:231430200-231430600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:231430200-231430600	Enhancers	Monocytes-CD14+_RO01746	blood

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