Variant report

Variant	rs4597656
Chromosome Location	chr3:98364254-98364255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1000003	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10428232	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1461157	0.84[ASN][1000 genomes]
rs1531377	0.82[ASN][1000 genomes]
rs3796137	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3796138	0.82[ASN][1000 genomes]
rs3796139	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4401313	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56693294	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58658285	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6440000	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6440004	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6440011	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6440012	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6440014	0.82[ASN][1000 genomes]
rs6440016	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6440017	0.82[ASN][1000 genomes]
rs6440022	0.82[ASN][1000 genomes]
rs6784453	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6785928	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6786182	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6790842	0.82[ASN][1000 genomes]
rs6796605	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803092	0.82[ASN][1000 genomes]
rs72924788	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7611858	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7614764	0.82[ASN][1000 genomes]
rs7618028	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7621637	0.82[ASN][1000 genomes]
rs7623192	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7625458	0.95[ASN][1000 genomes]
rs7630058	0.85[ASN][1000 genomes]
rs7632042	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7636521	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639655	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641726	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7650163	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7653204	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9867008	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9872119	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv524042	chr3:98317836-98436188	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1810552	chr3:98337517-98379709	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98363000-98364400	ZNF genes & repeats	GM12878-XiMat	blood
2	chr3:98363200-98366400	Enhancers	Fetal Thymus	thymus
3	chr3:98363600-98364400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:98363600-98364400	Enhancers	NHEK	skin
5	chr3:98363600-98366400	Enhancers	Thymus	Thymus
6	chr3:98363800-98364400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:98363800-98364400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:98363800-98364400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:98363800-98364400	Enhancers	Placenta	Placenta
10	chr3:98363800-98364400	Enhancers	Right Ventricle	heart
11	chr3:98363800-98366600	Enhancers	Dnd41	blood
12	chr3:98364000-98364400	Enhancers	Adipose Nuclei	Adipose
13	chr3:98364200-98365600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:98364200-98369600	Weak transcription	Primary monocytes fromperipheralblood	blood

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