Variant report

Variant	rs714528
Chromosome Location	chr2:178595373-178595374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178593275..178595968-chr2:178621315..178623404,2	K562	blood:
2	chr2:178593855..178595985-chr2:178597094..178599807,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10165826	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10168641	0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs10172247	0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs10172800	0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs10176298	0.86[YRI][hapmap]
rs10177961	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10178433	0.81[YRI][hapmap]
rs10178985	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs10192225	0.93[YRI][hapmap]
rs10194370	0.93[YRI][hapmap]
rs10202985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210259	0.94[AMR][1000 genomes]
rs13422021	0.93[YRI][hapmap]
rs13427906	0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs13429220	0.82[YRI][hapmap];0.94[AMR][1000 genomes]
rs13431084	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1438035	0.88[AMR][1000 genomes]
rs1438045	0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs1438046	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs16865593	0.93[YRI][hapmap]
rs16865604	0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs16865698	0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs16865700	0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs16865709	0.93[YRI][hapmap]
rs1866214	0.93[YRI][hapmap]
rs2164858	0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs57807004	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs60501109	0.82[AMR][1000 genomes]
rs6708025	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6727390	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6752409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6760512	0.90[YRI][hapmap]
rs73979531	0.82[AMR][1000 genomes]
rs7569984	0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs7583817	0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs7606084	0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178589400-178595600	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:178592200-178595600	Enhancers	Fetal Kidney	kidney
3	chr2:178593000-178596800	Weak transcription	Ovary	ovary
4	chr2:178594000-178596000	Enhancers	K562	blood
5	chr2:178594000-178605600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:178594400-178596200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:178595000-178596800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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