Variant report

Variant	rs4902327
Chromosome Location	chr14:65344803-65344804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65333231..65337568-chr14:65342616..65346293,4	K562	blood:
2	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
3	chr14:65326776..65328848-chr14:65344777..65346303,2	K562	blood:
4	chr12:57482006..57484279-chr14:65344658..65346177,2	MCF-7	breast:
5	chr14:65313975..65316632-chr14:65343546..65346097,2	MCF-7	breast:
6	chr14:65311733..65313591-chr14:65343114..65345431,2	K562	blood:

Variant related genes	Relation type
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10144554	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10873177	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158564	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628910	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12147448	0.83[ASW][hapmap]
rs1467569	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1467570	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1467571	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1467573	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1570296	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17102320	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1951490	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951491	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951492	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951495	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1957427	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1957428	0.92[ASN][1000 genomes]
rs1957429	0.92[ASN][1000 genomes]
rs1957431	0.96[ASN][1000 genomes]
rs1957432	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957434	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957435	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957436	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1998333	0.96[ASN][1000 genomes]
rs28370916	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2884308	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs368818	0.80[CHB][hapmap]
rs3813421	0.88[ASN][1000 genomes]
rs3813422	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3813423	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902325	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59876171	0.85[ASN][1000 genomes]
rs60979440	0.86[ASN][1000 genomes]
rs6573580	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6573581	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6573583	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141985	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143541	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs7143661	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144718	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7149922	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs763346	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8008745	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009510	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009996	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8013772	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8022462	0.91[ASW][hapmap]
rs9783609	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4902327	CHURC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65344000-65345600	Enhancers	Fetal Heart	heart
2	chr14:65344200-65345000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr14:65344200-65345000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr14:65344200-65346000	Flanking Active TSS	K562	blood
5	chr14:65344400-65345600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
6	chr14:65344400-65345600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
7	chr14:65344600-65345000	Enhancers	Right Ventricle	heart
8	chr14:65344600-65345400	Enhancers	Left Ventricle	heart
9	chr14:65344800-65345400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr14:65344800-65345600	Weak transcription	Psoas Muscle	Psoas

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