Variant report

Variant	rs12490985
Chromosome Location	chr3:160380647-160380648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160379485..160381403-chr3:160384390..160388251,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10936207	0.81[AMR][1000 genomes]
rs10936208	0.81[AMR][1000 genomes]
rs10936209	0.81[AMR][1000 genomes]
rs10936210	0.82[ASN][1000 genomes]
rs11927913	0.82[ASN][1000 genomes]
rs13095931	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1403045	0.80[ASN][1000 genomes]
rs1522285	0.82[ASN][1000 genomes]
rs16831337	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs17236586	0.81[CEU][hapmap];0.81[AMR][1000 genomes]
rs1879797	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs1980277	0.82[ASN][1000 genomes]
rs28544045	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28730907	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34949451	0.80[AMR][1000 genomes]
rs35308461	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35480231	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35867836	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36118017	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4133253	0.80[ASN][1000 genomes]
rs4679659	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4679660	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62272216	0.81[AMR][1000 genomes]
rs62272218	0.81[AMR][1000 genomes]
rs62272219	0.81[AMR][1000 genomes]
rs62272220	0.81[AMR][1000 genomes]
rs6763757	0.82[AMR][1000 genomes]
rs6763892	0.82[AMR][1000 genomes]
rs6773389	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6774379	0.81[AMR][1000 genomes]
rs6774566	0.81[AMR][1000 genomes]
rs6776873	0.82[ASN][1000 genomes]
rs6777739	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs6779581	0.81[CEU][hapmap];0.80[CHB][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6779671	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs6787452	0.81[AMR][1000 genomes]
rs6788429	0.82[AMR][1000 genomes]
rs6797760	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6798462	0.81[AMR][1000 genomes]
rs6801373	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6801636	0.81[AMR][1000 genomes]
rs6803670	0.82[ASN][1000 genomes]
rs6806755	0.80[ASN][1000 genomes]
rs7610939	0.81[CHB][hapmap];0.82[ASN][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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv877703	chr3:160325458-160398885	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv822308	chr3:160378594-160381820	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160372600-160385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:160378600-160381000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:160379200-160382400	Weak transcription	Hela-S3	cervix
4	chr3:160379200-160383800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:160379600-160381000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:160379600-160383400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:160379800-160382200	Weak transcription	GM12878-XiMat	blood
8	chr3:160379800-160382400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:160379800-160382800	Weak transcription	Fetal Thymus	thymus
10	chr3:160379800-160383000	Weak transcription	Dnd41	blood
11	chr3:160379800-160383600	Weak transcription	Thymus	Thymus

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