Variant report

Variant	rs12199482
Chromosome Location	chr6:143045546-143045547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12192768	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs169098	0.81[EUR][1000 genomes]
rs197475	0.81[EUR][1000 genomes]
rs197477	0.81[EUR][1000 genomes]
rs197482	0.87[EUR][1000 genomes]
rs197491	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3383	0.82[EUR][1000 genomes]
rs3850224	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850225	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3900201	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895597	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4896592	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4896593	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs517096	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56146803	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57584479	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7349872	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9373358	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9376706	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390022	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr6:143040400-143049200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:143042600-143046000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:143042800-143046000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:143043200-143046000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:143043200-143050000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:143043400-143046000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:143044400-143046000	Weak transcription	NHEK	skin
8	chr6:143044400-143049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:143044400-143049200	Weak transcription	HMEC	breast
10	chr6:143044600-143045800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:143044600-143046000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:143044600-143049600	Weak transcription	GM12878-XiMat	blood
13	chr6:143045200-143048400	Weak transcription	Fetal Brain Male	brain

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