Variant report

Variant	rs16949992
Chromosome Location	chr15:44238869-44238870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44237269..44240458-chr15:44244301..44246946,3	K562	blood:
2	chr15:44237370..44240153-chr15:44241264..44242889,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11853395	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1561458	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16948098	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs16948586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16948660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2623015	0.85[EUR][1000 genomes]
rs28654093	1.00[EUR][1000 genomes]
rs28729677	0.83[EUR][1000 genomes]
rs2918952	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2929275	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2929277	0.83[EUR][1000 genomes]
rs2929279	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2929282	0.85[EUR][1000 genomes]
rs2930523	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2930524	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2930525	0.83[EUR][1000 genomes]
rs34497759	0.85[EUR][1000 genomes]
rs4270152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4321171	1.00[EUR][1000 genomes]
rs481837	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs483800	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs492571	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs545119	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56793082	0.93[EUR][1000 genomes]
rs57143137	0.97[ASN][1000 genomes]
rs59561000	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59569210	0.94[ASN][1000 genomes]
rs7166823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7179287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs74009159	1.00[EUR][1000 genomes]
rs74009160	1.00[EUR][1000 genomes]
rs8035382	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8035402	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8035689	1.00[CEU][hapmap];1.00[EUR][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	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr15:44225400-44246200	Weak transcription	Right Atrium	heart
2	chr15:44225600-44246200	Weak transcription	NH-A	brain
3	chr15:44227200-44251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:44227400-44244200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:44229000-44245000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:44234200-44241000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr15:44235000-44239000	Weak transcription	Brain Angular Gyrus	brain
8	chr15:44235000-44242400	Weak transcription	Brain Substantia Nigra	brain
9	chr15:44236200-44239800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:44236400-44246200	Weak transcription	NHLF	lung
11	chr15:44236600-44240800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:44236600-44241000	Weak transcription	NHDF-Ad	bronchial
13	chr15:44236800-44240800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:44237800-44240400	Enhancers	GM12878-XiMat	blood
15	chr15:44238200-44239200	Enhancers	Fetal Heart	heart
16	chr15:44238200-44245800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:44238400-44239000	Enhancers	Left Ventricle	heart
18	chr15:44238400-44239200	Enhancers	Brain Cingulate Gyrus	brain
19	chr15:44238800-44239200	Enhancers	Brain Hippocampus Middle	brain
20	chr15:44238800-44240400	Enhancers	Brain Anterior Caudate	brain

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