Variant report

Variant	rs4711399
Chromosome Location	chr6:34676237-34676238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34674851..34676937-chr6:34678092..34680234,2	K562	blood:
2	chr6:34664626..34667053-chr6:34675137..34677958,3	K562	blood:
3	chr6:34664965..34667279-chr6:34675934..34678672,3	K562	blood:

Variant related genes	Relation type
ENSG00000196821	Chromatin interaction
ENSG00000272288	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2064253	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2252551	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2492862	0.81[EUR][1000 genomes]
rs2744948	0.89[EUR][1000 genomes]
rs2744952	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2744953	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2744962	0.81[EUR][1000 genomes]
rs2744966	0.81[EUR][1000 genomes]
rs2744967	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2744968	0.81[EUR][1000 genomes]
rs2764199	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2764200	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2764202	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814954	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2814965	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2814989	0.86[EUR][1000 genomes]
rs2814990	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2814997	0.84[EUR][1000 genomes]
rs2814998	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2815000	0.87[EUR][1000 genomes]
rs2815003	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3736896	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3800455	0.84[ASN][1000 genomes]
rs3800456	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41438444	0.85[ASN][1000 genomes]
rs4618513	0.81[EUR][1000 genomes]
rs4713823	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57916801	0.80[ASN][1000 genomes]
rs59014029	0.80[ASN][1000 genomes]
rs60754257	0.80[ASN][1000 genomes]
rs6457785	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6906500	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6932930	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6939345	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73413893	0.86[ASN][1000 genomes]
rs7739335	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7751664	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7752237	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7772600	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9296126	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9368829	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9380451	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv508401	chr6:34669708-34710302	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4711399	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs4711399	UHRF1BP1	cis	Artery Tibial	GTEx
rs4711399	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs4711399	UHRF1BP1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34672400-34676400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:34672400-34676800	Weak transcription	Ovary	ovary
3	chr6:34672800-34676400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:34673200-34676400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:34673400-34676400	Weak transcription	Fetal Heart	heart
6	chr6:34673400-34676600	Weak transcription	Stomach Mucosa	stomach
7	chr6:34673600-34677200	Weak transcription	K562	blood
8	chr6:34673600-34677200	Weak transcription	Osteobl	bone
9	chr6:34674000-34676800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:34676200-34678000	Enhancers	Brain Cingulate Gyrus	brain

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