Variant report

Variant	rs2766010
Chromosome Location	chr1:95442542-95442543
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95425797..95427777-chr1:95441464..95443916,2	K562	blood:
2	chr1:95442287..95445086-chr1:95447499..95449061,2	K562	blood:

Variant related genes	Relation type
ENSG00000235501	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1023330	0.95[CHD][hapmap]
rs10493880	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10735790	0.95[CEU][hapmap];0.82[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10874902	0.88[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11165299	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1146461	0.83[EUR][1000 genomes]
rs11585462	0.96[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11591183	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1246349	0.94[ASN][1000 genomes]
rs12569038	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12569207	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1265169	0.82[CHB][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs12741128	0.91[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap]
rs12751774	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2391388	0.92[CHB][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs2766005	0.83[ASN][1000 genomes]
rs2766011	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2797616	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2797622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2797623	0.96[ASN][1000 genomes]
rs34280926	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35678413	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35888232	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4309032	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4339907	0.96[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4390223	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4630159	0.91[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4847220	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4949965	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4950056	0.85[AMR][1000 genomes]
rs4950057	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4950058	0.91[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61774262	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6675668	0.84[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap]
rs6683112	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6687388	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6687450	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6694535	0.86[ASN][1000 genomes]
rs6698046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7533303	1.00[CHB][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap]
rs7537374	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs7547662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9437665	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9437689	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9437812	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9437813	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9661031	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2766010	PTBP2	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95422000-95450800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:95429000-95467600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:95436600-95445200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:95436600-95451200	Weak transcription	Small Intestine	intestine
5	chr1:95436800-95448600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:95437600-95455600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:95437800-95445400	Weak transcription	Right Atrium	heart
8	chr1:95437800-95455000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:95437800-95458400	Weak transcription	Liver	Liver
10	chr1:95438000-95445400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:95438000-95445400	Weak transcription	Left Ventricle	heart
12	chr1:95438200-95445800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:95439400-95445800	Weak transcription	Fetal Stomach	stomach
14	chr1:95439400-95446000	Weak transcription	Primary T cells from cord blood	blood
15	chr1:95439600-95448600	Weak transcription	Right Ventricle	heart
16	chr1:95440200-95450600	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:95440400-95447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:95440800-95445200	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:95440800-95445400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:95440800-95445400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:95440800-95447200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:95440800-95448800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:95441000-95445400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:95441000-95445600	Weak transcription	NHLF	lung
25	chr1:95441000-95445800	Weak transcription	HMEC	breast
26	chr1:95441000-95446000	Weak transcription	NH-A	brain
27	chr1:95441200-95445000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:95441200-95445200	Weak transcription	HSMMtube	muscle
29	chr1:95441200-95445200	Weak transcription	Osteobl	bone
30	chr1:95441200-95445400	Weak transcription	HSMM	muscle
31	chr1:95441200-95445600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:95441200-95445800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:95441200-95445800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:95441200-95445800	Weak transcription	NHDF-Ad	bronchial
35	chr1:95441200-95446000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:95441400-95445600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:95442000-95443600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:95442200-95442800	Enhancers	Duodenum Mucosa	Duodenum
39	chr1:95442400-95442600	Flanking Active TSS	Fetal Heart	heart

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