Variant report

Variant	rs4942930
Chromosome Location	chr13:51173280-51173281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1341634	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2160251	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs476990	0.80[ASN][1000 genomes]
rs4941673	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942931	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6561585	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6561586	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6561587	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs797520	0.84[EUR][1000 genomes]
rs9535468	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9535472	0.82[JPT][hapmap]
rs9535473	0.82[JPT][hapmap]

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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4942930	NUDT15	cis	cerebellum	SCAN
rs4942930	CDADC1	cis	cerebellum	SCAN
rs4942930	KPNA3	cis	lymphoblastoid	seeQTL
rs4942930	C13orf18	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51160200-51174000	Enhancers	Primary B cells from peripheral blood	blood
2	chr13:51168000-51174000	Enhancers	Fetal Muscle Leg	muscle
3	chr13:51168000-51174400	Enhancers	Fetal Thymus	thymus
4	chr13:51168400-51174000	Enhancers	Left Ventricle	heart
5	chr13:51168800-51173800	Enhancers	Adipose Nuclei	Adipose
6	chr13:51169000-51174400	Enhancers	Fetal Heart	heart
7	chr13:51169200-51174000	Enhancers	Primary B cells from cord blood	blood
8	chr13:51169200-51174000	Enhancers	Thymus	Thymus
9	chr13:51169200-51174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:51169200-51174800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:51169400-51173400	Enhancers	Right Atrium	heart
12	chr13:51169800-51174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:51169800-51175000	Enhancers	Dnd41	blood
14	chr13:51170200-51173400	Enhancers	Fetal Intestine Large	intestine
15	chr13:51170200-51173400	Enhancers	Right Ventricle	heart
16	chr13:51171600-51174800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:51172000-51173400	Enhancers	GM12878-XiMat	blood
18	chr13:51172200-51173400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr13:51172400-51173400	Enhancers	Psoas Muscle	Psoas
20	chr13:51172600-51173400	Enhancers	Pancreas	Pancrea
21	chr13:51172600-51173800	Enhancers	Fetal Stomach	stomach
22	chr13:51172600-51174600	Enhancers	K562	blood
23	chr13:51173000-51173400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr13:51173000-51174800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:51173200-51173400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr13:51173200-51173600	Enhancers	Fetal Lung	lung

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