Variant report

Variant	rs12488853
Chromosome Location	chr3:191017547-191017548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10513865	1.00[ASW][hapmap]
rs10804934	1.00[ASW][hapmap];0.83[GIH][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes]
rs10937476	0.84[ASN][1000 genomes]
rs12485794	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12486514	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12488903	0.88[ASN][1000 genomes]
rs12489742	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12490558	0.88[ASN][1000 genomes]
rs12491647	0.85[ASN][1000 genomes]
rs12493450	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12494040	0.89[ASN][1000 genomes]
rs12494331	0.86[ASN][1000 genomes]
rs12494416	0.84[ASN][1000 genomes]
rs12495302	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16822380	1.00[ASW][hapmap]
rs16866431	0.95[CHD][hapmap]
rs1994377	0.88[ASN][1000 genomes]
rs1994378	0.88[ASN][1000 genomes]
rs2117543	0.84[ASN][1000 genomes]
rs2364378	0.84[ASN][1000 genomes]
rs3816495	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs4247187	0.81[ASN][1000 genomes]
rs4677731	1.00[ASW][hapmap]
rs534282	1.00[YRI][hapmap]
rs6444538	0.88[ASN][1000 genomes]
rs746355	0.84[ASN][1000 genomes]
rs7648137	0.84[ASN][1000 genomes]
rs9845311	0.88[ASN][1000 genomes]
rs9855244	0.84[ASN][1000 genomes]
rs9856015	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv997716	chr3:190943706-191027499	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191009000-191018400	Enhancers	Primary B cells from cord blood	blood
2	chr3:191010200-191021000	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:191014400-191018600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:191014800-191018400	Enhancers	GM12878-XiMat	blood
5	chr3:191015600-191019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:191017000-191018600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:191017200-191019800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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