Variant report

Variant	rs4831227
Chromosome Location	chr3:115775454-115775455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11425708	0.89[ASN][1000 genomes]
rs11918080	0.89[ASN][1000 genomes]
rs12695319	0.90[ASN][1000 genomes]
rs13100914	0.87[ASN][1000 genomes]
rs13315058	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1344131	0.88[ASN][1000 genomes]
rs17630430	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17697994	0.88[ASN][1000 genomes]
rs1920360	0.91[ASN][1000 genomes]
rs1920379	0.89[ASN][1000 genomes]
rs2091669	0.89[ASN][1000 genomes]
rs2222827	0.89[ASN][1000 genomes]
rs2864066	0.83[ASN][1000 genomes]
rs2864067	0.83[ASN][1000 genomes]
rs28735793	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33956431	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34523792	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34543919	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34705863	0.87[ASN][1000 genomes]
rs34844901	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930794	0.88[ASN][1000 genomes]
rs35080450	0.91[ASN][1000 genomes]
rs35242629	0.87[ASN][1000 genomes]
rs35470268	0.87[ASN][1000 genomes]
rs35619123	0.87[ASN][1000 genomes]
rs35780065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35914238	0.89[ASN][1000 genomes]
rs4263291	0.88[ASN][1000 genomes]
rs4831121	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4831225	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4831226	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4831228	0.89[ASN][1000 genomes]
rs4831229	0.88[ASN][1000 genomes]
rs4831230	0.88[ASN][1000 genomes]
rs5004406	0.89[ASN][1000 genomes]
rs56121547	0.88[ASN][1000 genomes]
rs62269168	0.88[ASN][1000 genomes]
rs62269170	0.88[ASN][1000 genomes]
rs62271281	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66490447	0.89[ASN][1000 genomes]
rs6765355	0.89[ASN][1000 genomes]
rs6772113	0.89[ASN][1000 genomes]
rs73139202	0.89[ASN][1000 genomes]
rs7632265	0.88[ASN][1000 genomes]
rs7637650	0.89[ASN][1000 genomes]
rs9289042	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9816425	0.89[ASN][1000 genomes]
rs9821040	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9821865	0.89[ASN][1000 genomes]
rs9822568	0.89[ASN][1000 genomes]
rs9824605	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9836963	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9837276	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839078	0.89[ASN][1000 genomes]
rs9851643	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9854345	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854711	0.89[ASN][1000 genomes]
rs9855097	0.89[ASN][1000 genomes]
rs9857520	0.89[ASN][1000 genomes]
rs9858539	0.91[ASN][1000 genomes]
rs9866484	0.89[ASN][1000 genomes]
rs9868706	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9873576	0.94[ASN][1000 genomes]
rs9877662	0.89[ASN][1000 genomes]
rs9878289	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9878559	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2760762	chr3:115476222-115807650	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv829685	chr3:115643521-115812913	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1001538	chr3:115746561-115791116	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2751975	chr3:115766285-115902901	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2536613	chr3:115775237-115776396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115759000-115778200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:115766000-115775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:115766200-115794200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:115770400-115775800	Weak transcription	HMEC	breast
5	chr3:115770400-115777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:115773800-115776400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:115774800-115776200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:115775000-115776200	Flanking Active TSS	GM12878-XiMat	blood

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