Variant report

Variant	rs2224152
Chromosome Location	chr6:144316792-144316793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2092894	0.93[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes]
rs2268448	0.90[EUR][1000 genomes]
rs9321953	0.93[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9321956	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9373409	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs9376802	0.83[ASN][1000 genomes]
rs9386053	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9390147	0.93[CEU][hapmap];0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs9390148	0.92[CEU][hapmap];0.81[CHB][hapmap];0.94[EUR][1000 genomes]
rs9390150	0.86[CEU][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399468	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs9403540	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144284800-144318400	Weak transcription	Aorta	Aorta
2	chr6:144305000-144317200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:144305000-144327400	Weak transcription	Fetal Kidney	kidney
4	chr6:144305000-144327400	Weak transcription	Fetal Lung	lung
5	chr6:144306600-144327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:144309000-144327400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:144310000-144327200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:144310400-144320400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:144312800-144327400	Weak transcription	Left Ventricle	heart
10	chr6:144315200-144322800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:144315600-144321000	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:144315800-144320000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:144315800-144327200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:144316000-144320600	Weak transcription	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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