Variant report

Variant	rs2414553
Chromosome Location	chr15:58525552-58525553
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58516526..58518271-chr15:58524056..58526534,2	K562	blood:
2	chr15:58524274..58525988-chr15:58623095..58624851,2	K562	blood:

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4306445	0.83[YRI][hapmap]
rs4774291	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs935211	0.85[CHD][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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 target site	50 gene(s)	inside rSNPs	diseases
8	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58521400-58534200	Weak transcription	Liver	Liver
2	chr15:58522000-58525600	Weak transcription	A549	lung
3	chr15:58522400-58526200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:58522400-58528400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:58522600-58526200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:58522600-58526200	Weak transcription	HSMMtube	muscle
7	chr15:58522800-58526000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:58522800-58532200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:58523200-58528200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:58523200-58531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:58523200-58537800	Weak transcription	Left Ventricle	heart
12	chr15:58523600-58526600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:58523800-58525600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:58524000-58526400	Enhancers	HMEC	breast
15	chr15:58524200-58528800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:58524400-58526600	Flanking Active TSS	NHEK	skin
17	chr15:58524400-58528800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:58524600-58526000	Weak transcription	Placenta	Placenta
19	chr15:58524800-58547400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:58525000-58531800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:58525000-58535200	Weak transcription	Right Atrium	heart
22	chr15:58525400-58525800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:58525400-58526200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:58525400-58527600	Enhancers	Hela-S3	cervix

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