Variant report

Variant	rs12548416
Chromosome Location	chr8:38970038-38970039
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10958535	0.83[AFR][1000 genomes]
rs10958537	0.83[AFR][1000 genomes]
rs11787126	0.83[EUR][1000 genomes]
rs12541095	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12541231	0.83[EUR][1000 genomes]
rs12542529	0.93[AMR][1000 genomes]
rs12543388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543921	0.83[EUR][1000 genomes]
rs12545085	0.87[AMR][1000 genomes]
rs12546318	0.82[EUR][1000 genomes]
rs12548006	0.82[EUR][1000 genomes]
rs12548948	0.81[EUR][1000 genomes]
rs12549232	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12549547	0.83[EUR][1000 genomes]
rs13248324	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13256952	0.83[EUR][1000 genomes]
rs13274567	0.81[EUR][1000 genomes]
rs34002881	0.93[AMR][1000 genomes]
rs34070223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34185462	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34382496	0.93[AMR][1000 genomes]
rs34494323	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35275553	0.81[AFR][1000 genomes]
rs35391544	0.82[EUR][1000 genomes]
rs35935390	0.83[AFR][1000 genomes]
rs36042872	0.83[AFR][1000 genomes]
rs4292654	0.83[AFR][1000 genomes]
rs4308699	0.82[AFR][1000 genomes]
rs4324895	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4531014	0.82[AFR][1000 genomes]
rs4543512	0.83[EUR][1000 genomes]
rs4593506	0.83[AFR][1000 genomes]
rs4601278	0.82[AFR][1000 genomes]
rs4733905	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733981	0.84[AFR][1000 genomes]
rs6474108	0.81[AFR][1000 genomes]
rs6474109	0.82[AFR][1000 genomes]
rs66925354	0.83[EUR][1000 genomes]
rs9643858	0.83[EUR][1000 genomes]
rs9643902	0.82[EUR][1000 genomes]
rs9643904	0.82[EUR][1000 genomes]
rs9643906	0.82[EUR][1000 genomes]
rs9650326	0.82[AFR][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	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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
2	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38919000-38970400	Weak transcription	K562	blood
2	chr8:38961200-38970200	Weak transcription	HMEC	breast
3	chr8:38964200-38970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:38964400-38970400	Weak transcription	HSMM	muscle
5	chr8:38965400-38970200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:38965400-38970200	Weak transcription	HUVEC	blood vessel
7	chr8:38965600-38970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:38965600-38970200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:38965800-38970200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:38965800-38970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:38966000-38970200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:38966000-38970400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:38966400-38970200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:38968200-38970200	Weak transcription	A549	lung
15	chr8:38969800-38971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:38970000-38970800	Enhancers	GM12878-XiMat	blood
17	chr8:38970000-38971000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:38970000-38971000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:38970000-38971000	Enhancers	NHLF	lung
20	chr8:38970000-38971200	Enhancers	NH-A	brain

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