Variant report

Variant	rs4422383
Chromosome Location	chr4:30872098-30872099
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10755210	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10939315	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11934243	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11935059	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11938996	1.00[ASW][hapmap];0.97[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11946165	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12508739	0.89[TSI][hapmap]
rs13104143	0.95[ASN][1000 genomes]
rs13144831	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13150083	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs35509507	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35805877	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4269140	1.00[ASW][hapmap];0.97[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4352435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4352436	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4408918	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4563460	0.91[TSI][hapmap]
rs61794484	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61794485	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6811147	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6811465	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6842171	1.00[ASW][hapmap];0.85[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6842574	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6842896	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6858549	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7674446	0.94[ASW][hapmap];0.94[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7692684	0.86[TSI][hapmap]
rs9884332	0.83[EUR][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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30849200-30872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:30855200-30879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:30865200-30872200	Weak transcription	Left Ventricle	heart
4	chr4:30868800-30879200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:30868800-30886800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:30869400-30872400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:30870000-30872200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:30870000-30872200	Weak transcription	NHEK	skin
9	chr4:30870000-30872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:30870200-30879400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:30870800-30872200	Weak transcription	Fetal Heart	heart
12	chr4:30870800-30872200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:30870800-30903200	Weak transcription	Fetal Lung	lung
14	chr4:30871000-30872400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:30871200-30873000	Weak transcription	Aorta	Aorta

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