Variant report

Variant	rs12592365
Chromosome Location	chr15:33447860-33447861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11072275	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072278	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11631772	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11637274	0.82[AMR][1000 genomes]
rs11637738	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442498	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs12591081	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12594079	0.82[CEU][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap]
rs17816946	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28377066	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28507600	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609827	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4567671	0.82[CEU][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap]
rs4780088	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12592365	KLF13	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33438600-33449800	Weak transcription	NHEK	skin
2	chr15:33441200-33451800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:33442600-33448000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:33443800-33450200	Weak transcription	Fetal Intestine Large	intestine
5	chr15:33445600-33453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:33446000-33449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:33446200-33448200	Enhancers	Brain Hippocampus Middle	brain
8	chr15:33446400-33448800	Enhancers	Placenta	Placenta
9	chr15:33446800-33449800	Weak transcription	Lung	lung
10	chr15:33446800-33450200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:33447000-33448200	Enhancers	HSMMtube	muscle
12	chr15:33447000-33454600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:33447200-33449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:33447400-33448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:33447400-33449600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:33447600-33448000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr15:33447600-33448200	Enhancers	HSMM	muscle
18	chr15:33447600-33448600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:33447600-33449800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:33447600-33449800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr15:33447800-33448400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr15:33447800-33449800	Weak transcription	HMEC	breast
23	chr15:33447800-33452400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:33447800-33453200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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