Variant report

Variant	rs16996449
Chromosome Location	chr4:95819461-95819462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17022370	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs17022374	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs17022388	0.90[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022389	0.90[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022393	0.90[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022395	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022396	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022418	0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022426	0.84[LWK][hapmap]
rs17022443	1.00[GIH][hapmap]
rs17022446	0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022464	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs17022481	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs17022555	1.00[AMR][1000 genomes]
rs17022558	1.00[AMR][1000 genomes]
rs28405178	1.00[AMR][1000 genomes]
rs56051597	1.00[AMR][1000 genomes]
rs56115063	1.00[AMR][1000 genomes]
rs56294302	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56722132	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58043492	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59304180	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60447645	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60667124	1.00[AMR][1000 genomes]
rs60793962	0.82[AFR][1000 genomes]
rs61211063	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61505577	0.81[AFR][1000 genomes]
rs72887852	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887855	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887863	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887865	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887871	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887873	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887884	0.81[AFR][1000 genomes]
rs72887885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887886	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887896	1.00[AMR][1000 genomes]
rs73836156	0.81[AFR][1000 genomes]
rs73836161	0.82[AFR][1000 genomes]
rs9968485	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95811000-95833600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:95811200-95824800	Weak transcription	Aorta	Aorta
3	chr4:95812000-95821400	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:95812400-95830400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:95815800-95820800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:95816800-95845800	Weak transcription	A549	lung
7	chr4:95818400-95826600	Weak transcription	Pancreas	Pancrea
8	chr4:95818600-95821000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:95818600-95822400	Weak transcription	Fetal Heart	heart
10	chr4:95818600-95828400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:95818600-95830000	Weak transcription	Ovary	ovary
12	chr4:95818600-95830600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:95818800-95820200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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