Variant report

Variant	rs543593
Chromosome Location	chr4:20490710-20490711
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20483512..20485681-chr4:20488702..20490810,2	K562	blood:
2	chr4:20484129..20486943-chr4:20489263..20491359,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11944759	1.00[JPT][hapmap]
rs16869776	1.00[JPT][hapmap]
rs478351	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs490478	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs504337	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs522501	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs531297	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs571367	0.92[EUR][1000 genomes]
rs571373	0.89[EUR][1000 genomes]
rs596267	0.93[EUR][1000 genomes]
rs614026	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs627002	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs631901	0.89[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs666088	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs67186031	0.88[EUR][1000 genomes]
rs6810790	0.91[ASW][hapmap];0.94[CEU][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes]
rs684278	0.88[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7683520	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878742	chr4:20473799-20527864	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20465000-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:20466800-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:20480200-20493400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:20484800-20495200	Weak transcription	NHLF	lung
6	chr4:20485400-20491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:20486000-20491200	Strong transcription	Fetal Lung	lung
8	chr4:20488200-20491200	Weak transcription	Fetal Intestine Small	intestine
9	chr4:20488200-20493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
11	chr4:20489600-20495000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:20489800-20493400	Weak transcription	NHDF-Ad	bronchial
13	chr4:20489800-20494600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:20489800-20525400	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:20490000-20490800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:20490000-20491800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:20490000-20495200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:20490000-20496600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:20490400-20490800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:20490400-20495600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:20490600-20493800	Strong transcription	Osteobl	bone

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