Variant report

Variant	rs4847228
Chromosome Location	chr1:93493242-93493243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10747455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1764470	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2492899	1.00[AFR][1000 genomes]
rs2492900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2815405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4345812	1.00[AMR][1000 genomes]
rs4361994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4366327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4367789	1.00[AMR][1000 genomes]
rs4436402	1.00[AMR][1000 genomes]
rs4466666	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4491068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs473946	1.00[AMR][1000 genomes]
rs508180	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs521360	1.00[AMR][1000 genomes]
rs537410	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541676	1.00[AMR][1000 genomes]
rs545357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs574550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs587589	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593214	1.00[AMR][1000 genomes]
rs595783	1.00[AMR][1000 genomes]
rs596817	1.00[AMR][1000 genomes]
rs614073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs617683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs634127	1.00[AMR][1000 genomes]
rs640481	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs644020	1.00[AMR][1000 genomes]
rs6604036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661632	1.00[AMR][1000 genomes]
rs6690825	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs674982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs678537	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs770880	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs811286	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93486800-93494000	Enhancers	Dnd41	blood
2	chr1:93488000-93504200	Enhancers	Fetal Thymus	thymus
3	chr1:93492000-93493600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:93492000-93494800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:93492400-93497600	Enhancers	Thymus	Thymus
6	chr1:93493200-93495000	Enhancers	Primary T cells from cord blood	blood

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