Variant report

Variant	rs73415742
Chromosome Location	chr6:34715377-34715378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34712098..34715933-chr6:34757940..34761251,5	MCF-7	breast:
2	chr6:34706320..34708599-chr6:34713149..34715491,2	K562	blood:
3	chr6:34707099..34709785-chr6:34713149..34715872,2	K562	blood:
4	chr6:34715331..34716988-chr6:34717011..34719994,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065060	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1125342	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12175621	0.81[ASN][1000 genomes]
rs12176092	0.81[ASN][1000 genomes]
rs16894102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16894945	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16894995	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1964810	0.84[EUR][1000 genomes]
rs2236392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2764199	0.89[ASN][1000 genomes]
rs2764200	0.88[ASN][1000 genomes]
rs2764202	0.87[ASN][1000 genomes]
rs2814954	0.88[ASN][1000 genomes]
rs2814965	0.97[ASN][1000 genomes]
rs3734260	0.85[ASN][1000 genomes]
rs3734263	0.84[ASN][1000 genomes]
rs3736896	0.94[ASN][1000 genomes]
rs3777751	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798349	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800447	0.84[EUR][1000 genomes]
rs3800455	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3800456	0.87[ASN][1000 genomes]
rs41438444	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4713823	0.80[ASN][1000 genomes]
rs56825685	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56842618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56987113	0.92[EUR][1000 genomes]
rs57338415	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57637041	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57645599	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57916801	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58643640	0.92[EUR][1000 genomes]
rs58654146	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58817410	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58833137	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59014029	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59851773	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59884600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59952325	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60410089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60439875	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60754257	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6906500	0.86[ASN][1000 genomes]
rs6932930	0.80[ASN][1000 genomes]
rs6939345	0.94[ASN][1000 genomes]
rs73413893	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73415706	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73415758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73415760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73415779	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73415781	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73417752	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73417786	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73419615	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73419643	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73419650	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73419656	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419658	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419660	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419689	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7739335	0.85[ASN][1000 genomes]
rs7752237	0.85[ASN][1000 genomes]
rs7772600	0.88[ASN][1000 genomes]
rs9296126	0.87[ASN][1000 genomes]
rs9366873	0.81[ASN][1000 genomes]
rs9368829	0.84[ASN][1000 genomes]
rs9380451	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73415742	UHRF1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34711600-34715400	Enhancers	Fetal Intestine Large	intestine
2	chr6:34713400-34715600	Enhancers	K562	blood
3	chr6:34713600-34716200	Enhancers	Stomach Mucosa	stomach
4	chr6:34714400-34715800	Weak transcription	Esophagus	oesophagus
5	chr6:34714400-34716200	Enhancers	HepG2	liver
6	chr6:34715200-34715400	Enhancers	Small Intestine	intestine

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