Variant report

Variant	rs4314885
Chromosome Location	chr1:209902704-209902705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209901763..209904735-chr1:209904804..209907749,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1000282	0.88[EUR][1000 genomes]
rs1000283	0.89[EUR][1000 genomes]
rs10863783	0.89[EUR][1000 genomes]
rs10863785	0.89[EUR][1000 genomes]
rs11119327	0.89[EUR][1000 genomes]
rs11119330	0.89[EUR][1000 genomes]
rs11119331	0.89[EUR][1000 genomes]
rs11119332	0.88[EUR][1000 genomes]
rs11119337	0.88[AMR][1000 genomes]
rs11485195	0.89[EUR][1000 genomes]
rs11487866	0.89[EUR][1000 genomes]
rs11808690	0.89[EUR][1000 genomes]
rs12034758	0.83[EUR][1000 genomes]
rs12059226	0.89[EUR][1000 genomes]
rs12060420	0.89[EUR][1000 genomes]
rs12060922	0.89[EUR][1000 genomes]
rs12086634	0.89[EUR][1000 genomes]
rs12090931	0.89[EUR][1000 genomes]
rs12094117	0.89[EUR][1000 genomes]
rs12116437	0.89[EUR][1000 genomes]
rs12120361	0.88[EUR][1000 genomes]
rs12129718	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12138452	0.89[EUR][1000 genomes]
rs1337531	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1415542	0.89[EUR][1000 genomes]
rs1415544	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1999826	0.84[EUR][1000 genomes]
rs2064148	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2205985	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2236903	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282738	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282739	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282741	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2884090	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765240	0.84[EUR][1000 genomes]
rs3766619	0.89[EUR][1000 genomes]
rs3817821	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4844891	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6540549	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6672256	0.89[EUR][1000 genomes]
rs667681	0.89[EUR][1000 genomes]
rs6679099	0.89[EUR][1000 genomes]
rs6700223	0.92[AMR][1000 genomes]
rs6752	0.89[EUR][1000 genomes]
rs7532324	0.91[EUR][1000 genomes]
rs7539852	0.89[EUR][1000 genomes]
rs7548781	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7555978	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs932335	0.89[EUR][1000 genomes]
rs9430012	0.89[EUR][1000 genomes]
rs9430014	0.89[EUR][1000 genomes]
rs9430015	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9430016	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
4	nsv1004343	chr1:209879304-209909385	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv525445	chr1:209885318-209912593	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209894400-209907400	Weak transcription	Right Ventricle	heart
2	chr1:209897600-209903400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:209897800-209906200	Weak transcription	Ovary	ovary
4	chr1:209901000-209903000	Enhancers	Fetal Heart	heart
5	chr1:209901200-209906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:209902000-209905000	Weak transcription	Liver	Liver
7	chr1:209902400-209902800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:209902400-209902800	Enhancers	Left Ventricle	heart
9	chr1:209902400-209903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:209902400-209915000	Weak transcription	Brain Substantia Nigra	brain
11	chr1:209902400-209915400	Weak transcription	Brain Angular Gyrus	brain

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