Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40642351..40644678-chr7:40648478..40652867,3	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10226881	0.95[YRI][hapmap]
rs10228522	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs10240076	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs10241399	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10264524	0.89[AFR][1000 genomes]
rs10277710	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs10282307	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs1034804	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs17171725	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs17171735	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs17171746	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs17171754	0.95[YRI][hapmap]
rs2214846	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs28479858	0.92[AFR][1000 genomes]
rs28565517	0.86[AFR][1000 genomes]
rs28644197	0.92[AFR][1000 genomes]
rs4492257	0.95[YRI][hapmap]
rs57955744	0.93[AFR][1000 genomes]
rs6943218	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs6975971	0.86[AFR][1000 genomes]
rs73310219	0.89[AFR][1000 genomes]
rs7782395	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs7782411	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs7801001	0.89[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40642600-40651800	Weak transcription	HSMM	muscle
2	chr7:40646200-40668800	Weak transcription	Aorta	Aorta
3	chr7:40647400-40648600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:40647600-40648800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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