Variant report

Variant	rs58716252
Chromosome Location	chr15:39893686-39893687
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	chr15:39885481..39888433-chr15:39892783..39894545,2	K562	blood:
2	chr15:39886322..39888433-chr15:39891587..39894545,2	K562	blood:

Variant related genes	Relation type
ENSG00000259279	Chromatin interaction
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10083552	1.00[EUR][1000 genomes]
rs16969307	1.00[EUR][1000 genomes]
rs16969364	1.00[EUR][1000 genomes]
rs16969365	1.00[EUR][1000 genomes]
rs16969384	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969484	1.00[EUR][1000 genomes]
rs16969573	1.00[EUR][1000 genomes]
rs41376748	1.00[EUR][1000 genomes]
rs41406047	1.00[EUR][1000 genomes]
rs41515347	1.00[EUR][1000 genomes]
rs58677957	1.00[EUR][1000 genomes]
rs59146042	1.00[EUR][1000 genomes]
rs61040173	1.00[EUR][1000 genomes]
rs7163020	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7166437	1.00[AMR][1000 genomes]
rs7172057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008705	1.00[EUR][1000 genomes]
rs8023525	1.00[EUR][1000 genomes]
rs8029417	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8030643	1.00[EUR][1000 genomes]
rs8031289	1.00[EUR][1000 genomes]
rs8033803	1.00[EUR][1000 genomes]
rs8035627	1.00[EUR][1000 genomes]
rs8043342	1.00[EUR][1000 genomes]
rs878941	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1048628	chr15:39877498-39940104	Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1502	chr15:39884314-39928968	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr15:39888400-39899200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:39888400-39899200	Weak transcription	Esophagus	oesophagus
3	chr15:39888400-39899200	Weak transcription	Left Ventricle	heart
4	chr15:39888400-39900600	Weak transcription	Fetal Brain Female	brain
5	chr15:39888400-39901000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:39888400-39901000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:39888800-39894400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:39889200-39901200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:39890200-39900800	Weak transcription	HMEC	breast
10	chr15:39890600-39897000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:39892200-39899200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:39892600-39897800	Weak transcription	Osteobl	bone
13	chr15:39892800-39896800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:39892800-39896800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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