Variant report

Variant	rs12541095
Chromosome Location	chr8:38970217-38970218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12542529	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12543388	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545085	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12548416	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12549232	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34002881	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34070223	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34185462	0.85[ASN][1000 genomes]
rs34382496	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34494323	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4236757	0.82[EUR][1000 genomes]
rs4324895	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4733905	0.81[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	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:25 , 50 per page) page: 1

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

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