Variant report

Variant	rs1957423
Chromosome Location	chr14:65358789-65358790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65289524..65290526-chr14:65358021..65359324,8	K562	blood:
2	chr14:65288738..65289433-chr14:65358177..65359166,2	K562	blood:
3	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
4	chr14:65268216..65269184-chr14:65358330..65359038,4	K562	blood:
5	chr14:65238831..65239785-chr14:65358174..65359063,5	MCF-7	breast:
6	chr14:65289311..65290700-chr14:65357720..65359432,13	MCF-7	breast:
7	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
8	chr14:65289223..65290628-chr14:65357779..65359171,7	MCF-7	breast:
9	chr14:65358336..65361161-chr14:65365213..65366947,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10136196	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145845	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10498518	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1064108	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11622394	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11623886	0.86[ASN][1000 genomes]
rs11626982	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11627589	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11627688	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11848113	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12433639	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12433641	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12436747	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12590986	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12878229	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879744	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881353	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12889323	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889417	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12890654	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12891652	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951993	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957417	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1957418	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1957419	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1957420	0.83[AFR][1000 genomes]
rs1957421	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1957425	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1957426	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2071566	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2147612	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2147616	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2277501	0.87[ASN][1000 genomes]
rs2296326	0.87[ASN][1000 genomes]
rs2357867	0.87[AFR][1000 genomes]
rs2357868	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2737844	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28679793	0.83[ASN][1000 genomes]
rs2898874	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3087955	0.91[ASN][1000 genomes]
rs34201584	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34969442	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35176965	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3759681	0.81[EUR][1000 genomes]
rs4243629	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs45454295	0.82[EUR][1000 genomes]
rs4902334	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902339	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143358	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7151401	0.83[AFR][1000 genomes]
rs7151780	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs743263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743264	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs762071	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8003530	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8016174	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv510638	chr14:65353025-65368298	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv993830	chr14:65357515-65363884	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs1957423	CHURC1	cis	Nerve Tibial	GTEx
rs1957423	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs1957423	CHURC1	cis	Heart Left Ventricle	GTEx
rs1957423	CHURC1	cis	Artery Aorta	GTEx
rs1957423	CHURC1	cis	Whole Blood	GTEx
rs1957423	CHURC1	cis	Thyroid	GTEx
rs1957423	CHURC1	cis	Esophagus Muscularis	GTEx
rs1957423	CHURC1	cis	Adipose Subcutaneous	GTEx
rs1957423	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs1957423	CHURC1	cis	Esophagus Mucosa	GTEx
rs1957423	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs1957423	CHURC1	cis	Muscle Skeletal	GTEx
rs1957423	CHURC1	cis	Artery Tibial	GTEx
rs1957423	CHURC1	cis	lung	GTEx
rs1957423	CHURC1	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65358200-65359000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr14:65358600-65368000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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