Variant report

Variant	rs12504491
Chromosome Location	chr4:100102320-100102321
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10022174	0.89[EUR][1000 genomes]
rs10026860	0.89[EUR][1000 genomes]
rs12499210	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12499710	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12501204	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12502056	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504321	0.86[EUR][1000 genomes]
rs12504365	0.86[EUR][1000 genomes]
rs12505816	0.85[EUR][1000 genomes]
rs12506882	0.89[EUR][1000 genomes]
rs12507078	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12508502	0.86[EUR][1000 genomes]
rs12512053	0.86[EUR][1000 genomes]
rs12512110	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12649136	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16996598	0.93[ASN][1000 genomes]
rs17028765	0.89[EUR][1000 genomes]
rs17033	0.84[EUR][1000 genomes]
rs2010612	0.92[EUR][1000 genomes]
rs2156731	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2226896	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2276332	0.86[EUR][1000 genomes]
rs28364304	0.81[EUR][1000 genomes]
rs28364333	0.86[EUR][1000 genomes]
rs28914770	0.84[EUR][1000 genomes]
rs28914775	0.84[EUR][1000 genomes]
rs28914794	0.84[EUR][1000 genomes]
rs35882815	0.89[EUR][1000 genomes]
rs36139400	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805325	0.86[EUR][1000 genomes]
rs4148884	0.89[EUR][1000 genomes]
rs4699381	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4699734	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55926943	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56948765	0.83[EUR][1000 genomes]
rs57058570	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57428460	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58660705	0.92[EUR][1000 genomes]
rs58827689	0.89[EUR][1000 genomes]
rs58964688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60345995	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60468511	0.86[EUR][1000 genomes]
rs61681818	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6840413	0.88[EUR][1000 genomes]
rs72679827	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72679867	0.92[EUR][1000 genomes]
rs72679874	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72679893	0.85[EUR][1000 genomes]
rs7654607	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7663369	0.88[EUR][1000 genomes]
rs7669335	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7692358	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7692974	0.89[EUR][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv879657	chr4:100082154-100139366	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100098600-100113400	Weak transcription	Aorta	Aorta
2	chr4:100098600-100113400	Weak transcription	Ovary	ovary
3	chr4:100099000-100112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:100101000-100102600	Enhancers	Colon Smooth Muscle	Colon
5	chr4:100101000-100102800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:100101200-100102600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:100101200-100102800	Enhancers	Fetal Muscle Leg	muscle
8	chr4:100101400-100102600	Enhancers	NHDF-Ad	bronchial
9	chr4:100101400-100102800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:100101400-100106800	Weak transcription	Liver	Liver
11	chr4:100101600-100103200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:100101600-100109200	Weak transcription	Pancreas	Pancrea
13	chr4:100102200-100102800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:100102200-100107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:100102200-100123400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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