Variant report

Variant	rs1985944
Chromosome Location	chr4:87819283-87819284
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	chr4:87507453..87509396-chr4:87819000..87821913,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10011798	0.97[ASN][1000 genomes]
rs10015121	0.97[ASN][1000 genomes]
rs10015477	0.97[ASN][1000 genomes]
rs10015639	0.86[EUR][1000 genomes]
rs10021020	0.91[ASN][1000 genomes]
rs10021790	0.82[ASN][1000 genomes]
rs10034336	0.95[ASN][1000 genomes]
rs1010902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516786	0.86[EUR][1000 genomes]
rs11097124	0.93[EUR][1000 genomes]
rs13115795	0.93[ASN][1000 genomes]
rs13120981	0.91[ASN][1000 genomes]
rs13137483	0.91[ASN][1000 genomes]
rs17012132	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012170	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17012200	0.88[EUR][1000 genomes]
rs17012213	0.88[EUR][1000 genomes]
rs17012216	0.88[EUR][1000 genomes]
rs17751427	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17751557	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2053771	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2121871	0.91[ASN][1000 genomes]
rs28446826	0.96[ASN][1000 genomes]
rs28641910	0.97[ASN][1000 genomes]
rs28650493	0.97[ASN][1000 genomes]
rs28716151	0.91[ASN][1000 genomes]
rs35428486	0.90[ASN][1000 genomes]
rs4693153	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4693154	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4693795	0.89[EUR][1000 genomes]
rs55698195	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55831707	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55851914	0.88[EUR][1000 genomes]
rs56201068	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61651372	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6531941	0.86[EUR][1000 genomes]
rs6823051	0.93[ASN][1000 genomes]
rs6846822	0.97[ASN][1000 genomes]
rs72667703	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667705	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72667716	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667721	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667724	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667727	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72667735	0.88[EUR][1000 genomes]
rs72667736	0.88[EUR][1000 genomes]
rs72667737	0.88[EUR][1000 genomes]
rs72667739	0.88[EUR][1000 genomes]
rs72667741	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87814000-87825000	Weak transcription	Right Atrium	heart
2	chr4:87814000-87825200	Weak transcription	Left Ventricle	heart
3	chr4:87814200-87824800	Weak transcription	Adipose Nuclei	Adipose
4	chr4:87814200-87825000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:87814200-87825200	Weak transcription	Right Ventricle	heart
6	chr4:87814200-87825200	Weak transcription	A549	lung
7	chr4:87814200-87829400	Weak transcription	K562	blood
8	chr4:87814400-87825000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:87814400-87825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:87814400-87825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:87814600-87821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:87814600-87821600	Weak transcription	Placenta	Placenta
13	chr4:87814600-87825200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:87814600-87830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:87816200-87821600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:87816200-87821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:87816200-87825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:87818600-87821600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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