Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173741257..173743935-chr2:173744590..173747006,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12989240	1.00[MEX][hapmap]
rs1344590	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1446980	1.00[MEX][hapmap]
rs1469214	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1968290	0.81[YRI][hapmap];0.84[AMR][1000 genomes]
rs2194723	1.00[YRI][hapmap]
rs2357807	1.00[MEX][hapmap]
rs2553004	1.00[MEX][hapmap]
rs2553010	0.84[AMR][1000 genomes]
rs2553012	0.84[AMR][1000 genomes]
rs2553014	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs2553016	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2553017	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2592938	1.00[MEX][hapmap]
rs2592940	1.00[MEX][hapmap]
rs2676503	1.00[MEX][hapmap]
rs2676516	1.00[MEX][hapmap]
rs2676519	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2676527	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2884283	1.00[MEX][hapmap]
rs4541226	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972866	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6754271	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7585729	1.00[MEX][hapmap]
rs7607344	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs933785	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173726800-173753600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:173734400-173747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:173742200-173743400	Enhancers	Brain Anterior Caudate	brain
4	chr2:173742400-173743400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:173742400-173743400	Enhancers	Osteobl	bone
6	chr2:173742600-173755000	Weak transcription	Left Ventricle	heart
7	chr2:173742800-173743400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:173743000-173748600	Weak transcription	NHEK	skin
9	chr2:173743000-173756400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:173743200-173744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search: