Variant report

Variant	rs2063244
Chromosome Location	chr5:90240028-90240029
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10057134	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213801	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs10942618	0.92[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942619	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744005	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749470	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750515	0.96[CEU][hapmap];0.96[GIH][hapmap];0.83[LWK][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163934	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967413	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2367182	0.96[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3105789	0.91[CEU][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105790	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3114653	0.88[LWK][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs3114655	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4415111	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452914	0.92[CEU][hapmap];0.83[GIH][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867530	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705201	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716083	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90225800-90244000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:90230400-90265200	Weak transcription	K562	blood
3	chr5:90231600-90250800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:90236600-90243400	Weak transcription	HepG2	liver
5	chr5:90236800-90263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:90237400-90241000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:90237400-90246400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:90237600-90241600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:90237600-90241800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:90237600-90242200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:90237600-90245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:90237800-90241600	Weak transcription	Brain Germinal Matrix	brain
13	chr5:90239200-90240600	Enhancers	NHEK	skin
14	chr5:90239400-90240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:90239400-90240200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:90239400-90240400	Enhancers	A549	lung
17	chr5:90239800-90241000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:90240000-90240400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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