Variant report

Variant	rs114813
Chromosome Location	chr14:65294076-65294077
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12587537	0.83[CEU][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1273204	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1695751	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016522	0.83[CEU][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2269292	0.83[CHD][hapmap]
rs229609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229611	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229616	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs229618	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs229619	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs229667	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs229670	0.83[MEX][hapmap]
rs229673	0.84[MEX][hapmap]
rs2649196	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs28495181	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4027216	0.92[CHB][hapmap]
rs423927	1.00[CHB][hapmap]
rs438035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs114813	CHURC1	cis	parietal	SCAN
rs114813	CHURC1	cis	lymphoblastoid	seeQTL
rs114813	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs114813	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs114813	CHURC1	cis	multi-tissue	Pritchard
rs114813	VTI1B	cis	cerebellum	SCAN
rs114813	CHURC1	cis	cerebellum	SCAN
rs114813	GPHB5	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65289800-65295200	Enhancers	Left Ventricle	heart
2	chr14:65290000-65295200	Enhancers	Psoas Muscle	Psoas
3	chr14:65290600-65294400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:65291000-65295600	Enhancers	Fetal Muscle Leg	muscle
5	chr14:65291600-65296000	Enhancers	K562	blood
6	chr14:65292000-65297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:65292400-65294800	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:65292600-65297800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65292800-65295000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr14:65293000-65294800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:65293000-65294800	Weak transcription	Right Ventricle	heart
12	chr14:65293600-65294600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr14:65293600-65295600	Enhancers	HSMMtube	muscle
14	chr14:65293600-65297400	Weak transcription	Fetal Heart	heart
15	chr14:65293800-65294400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr14:65293800-65294400	Weak transcription	HMEC	breast
17	chr14:65294000-65294400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:65294000-65294600	Weak transcription	Right Atrium	heart
19	chr14:65294000-65297800	Weak transcription	Monocytes-CD14+_RO01746	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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