Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197335577..197340315-chr1:197341690..197345883,4	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1033826	0.92[YRI][hapmap]
rs1570412	0.92[YRI][hapmap]
rs1570413	0.92[YRI][hapmap]
rs1923758	0.89[YRI][hapmap]
rs1923760	0.93[YRI][hapmap]
rs1923763	0.93[YRI][hapmap]
rs1951697	0.93[YRI][hapmap]
rs2146485	0.93[YRI][hapmap]
rs2359119	0.82[YRI][hapmap]
rs2476016	0.83[AFR][1000 genomes]
rs2476017	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs2476018	1.00[YRI][hapmap]
rs2476024	0.87[AFR][1000 genomes]
rs2759660	0.93[YRI][hapmap]
rs2786099	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2821099	0.95[YRI][hapmap]
rs2821105	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2821119	0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3888104	0.93[YRI][hapmap]
rs3902057	0.92[YRI][hapmap]
rs4335404	0.93[YRI][hapmap]
rs6684593	0.92[YRI][hapmap]
rs6691940	0.89[YRI][hapmap]
rs7514167	0.89[YRI][hapmap]
rs7515749	0.93[YRI][hapmap]
rs980370	0.92[YRI][hapmap]
rs980371	0.92[YRI][hapmap]

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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197324000-197338800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197324000-197347000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:197329800-197338400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:197329800-197342400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:197337200-197338600	Enhancers	Ovary	ovary

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