Variant report

Variant	rs17821135
Chromosome Location	chr15:58495970-58495971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17240643	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs17240650	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs17240671	0.89[EUR][1000 genomes]
rs17821117	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2271678	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2292714	0.81[EUR][1000 genomes]
rs3784255	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs3825777	0.85[EUR][1000 genomes]
rs55672049	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55808100	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55832939	0.83[EUR][1000 genomes]
rs55860231	0.85[EUR][1000 genomes]
rs55885730	0.85[EUR][1000 genomes]
rs56099208	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56141765	0.85[EUR][1000 genomes]
rs66717621	0.85[EUR][1000 genomes]
rs67683432	0.86[EUR][1000 genomes]
rs7161943	0.88[EUR][1000 genomes]
rs72737450	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2752813	chr15:58461006-58507064	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17821135	CGNL1	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58492800-58497800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:58492800-58498400	Enhancers	NHDF-Ad	bronchial
3	chr15:58493400-58496600	Enhancers	HUVEC	blood vessel
4	chr15:58493400-58497000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr15:58493400-58497400	Enhancers	NHLF	lung
6	chr15:58493600-58496800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:58494000-58500800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:58494800-58496600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:58495200-58496600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:58495200-58496600	Enhancers	Osteobl	bone
11	chr15:58495400-58496000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:58495400-58496400	Enhancers	K562	blood
13	chr15:58495400-58497000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:58495400-58498400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:58495600-58496000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:58495600-58496400	Enhancers	NH-A	brain
17	chr15:58495600-58497200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:58495800-58496000	Enhancers	A549	lung
19	chr15:58495800-58496000	Enhancers	HSMMtube	muscle
20	chr15:58495800-58496200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr15:58495800-58496400	Enhancers	Right Atrium	heart

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