Variant report

Variant	rs11621527
Chromosome Location	chr14:65357979-65357980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65353028..65355615-chr14:65356230..65358479,2	K562	blood:
2	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
3	chr14:65356440..65358700-chr14:65379769..65381546,2	MCF-7	breast:
4	chr14:65289311..65290700-chr14:65357720..65359432,13	MCF-7	breast:
5	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
6	chr14:65289223..65290628-chr14:65357779..65359171,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11621450	0.93[CEU][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11622077	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623705	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624878	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11625722	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11626557	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11629410	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752452	0.92[CEU][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17767942	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17767960	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17880303	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17880939	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17882875	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17883358	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1886506	0.87[ASN][1000 genomes]
rs2277502	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742599	0.89[ASN][1000 genomes]
rs4899156	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs4902331	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902333	0.84[CEU][hapmap]
rs4902347	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902348	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902349	0.93[CEU][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902350	0.93[CEU][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902351	0.93[CEU][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60796816	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143764	0.84[CEU][hapmap]
rs7145282	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72726259	0.81[ASN][1000 genomes]
rs72726275	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726283	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72726294	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72726300	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72726301	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72728209	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72728213	0.90[EUR][1000 genomes]
rs72728215	0.89[EUR][1000 genomes]
rs8021599	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv510638	chr14:65353025-65368298	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv993830	chr14:65357515-65363884	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11621527	CHURC1	cis	Heart Left Ventricle	GTEx
rs11621527	CHURC1	cis	normal skin	skin_eQTL
rs11621527	CHURC1	cis	multi-tissue	Pritchard
rs11621527	C14orf52	cis	multi-tissue	Pritchard
rs11621527	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs11621527	CHURC1	cis	Artery Tibial	GTEx
rs11621527	CHURC1	cis	Muscle Skeletal	GTEx
rs11621527	CHURC1	cis	Thyroid	GTEx
rs11621527	CHURC1	cis	lung	GTEx
rs11621527	CHURC1	cis	Whole Blood	GTEx
rs11621527	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65357400-65358600	Enhancers	K562	blood
2	chr14:65357800-65358400	Enhancers	Liver	Liver
3	chr14:65357800-65358600	Enhancers	Skeletal Muscle Female	skeletal muscle

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