Variant report

Variant	rs2424460
Chromosome Location	chr20:22740897-22740898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6075947	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528221	chr20:22732749-22767280	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Age of smoking initiation	24665060	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2424460	ZNF337	cis	parietal	SCAN
rs2424460	GINS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22734800-22745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:22736600-22741200	Weak transcription	Esophagus	oesophagus
3	chr20:22736600-22741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:22737800-22749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:22738600-22743000	Weak transcription	A549	lung
6	chr20:22739000-22742800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:22739200-22741200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr20:22739400-22741400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:22739400-22741400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr20:22739400-22741400	Weak transcription	HSMMtube	muscle
11	chr20:22739400-22743200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:22739400-22743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:22739600-22742400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:22739600-22742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:22739600-22743200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:22739600-22743200	Weak transcription	Fetal Muscle Leg	muscle
17	chr20:22739600-22743400	Weak transcription	Aorta	Aorta
18	chr20:22739600-22743600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr20:22740000-22744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr20:22740600-22742200	Weak transcription	HMEC	breast
21	chr20:22740600-22742600	Weak transcription	HSMM	muscle
22	chr20:22740800-22741000	Weak transcription	Right Atrium	heart
23	chr20:22740800-22741200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr20:22740800-22746000	Enhancers	Placenta	Placenta

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