Variant report

Variant	rs17767942
Chromosome Location	chr14:65372620-65372621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65371374..65373964-chr14:65403837..65405514,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11621450	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11621527	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622077	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11623597	0.86[JPT][hapmap]
rs11623705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624878	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625722	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11626557	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11629410	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12147495	0.86[JPT][hapmap]
rs17752452	0.93[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17767960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17880303	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17880939	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17882875	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17883358	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886506	0.80[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2277502	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742599	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs4899156	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902322	0.86[JPT][hapmap]
rs4902331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902346	0.85[JPT][hapmap]
rs4902347	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902348	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902349	0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902350	0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902351	0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60796816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143764	0.85[CEU][hapmap]
rs7144811	0.86[JPT][hapmap]
rs7145282	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72726275	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72726283	0.89[EUR][1000 genomes]
rs72726294	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726300	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72726301	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72728209	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72728213	0.92[EUR][1000 genomes]
rs72728215	0.91[EUR][1000 genomes]
rs8021599	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1311	chr14:65352722-65379802	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs17767942	CHURC1	cis	Whole Blood	GTEx
rs17767942	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs17767942	CHURC1	cis	lesional skin	skin_eQTL
rs17767942	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs17767942	CHURC1	cis	Artery Tibial	GTEx
rs17767942	C14orf52	cis	multi-tissue	Pritchard
rs17767942	CHURC1	cis	multi-tissue	Pritchard
rs17767942	CHURC1	cis	Thyroid	GTEx
rs17767942	CHURC1	cis	lung	GTEx
rs17767942	CHURC1	cis	Muscle Skeletal	GTEx
rs17767942	CHURC1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65372000-65373200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:65372000-65373400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr14:65372200-65373000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:65372200-65373200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr14:65372400-65373200	Enhancers	HMEC	breast
6	chr14:65372400-65373800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:65372400-65373800	Enhancers	Hela-S3	cervix
8	chr14:65372400-65374000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:65372600-65373000	Enhancers	Primary hematopoietic stem cells	blood
10	chr14:65372600-65373200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:65372600-65373400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:65372600-65373800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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