Variant report

Variant	rs74146386
Chromosome Location	chr1:224741803-224741804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10495221	1.00[EUR][1000 genomes]
rs11801211	1.00[EUR][1000 genomes]
rs11802182	1.00[EUR][1000 genomes]
rs11807149	1.00[EUR][1000 genomes]
rs11809688	1.00[EUR][1000 genomes]
rs11809710	1.00[EUR][1000 genomes]
rs11810160	1.00[EUR][1000 genomes]
rs11811935	1.00[EUR][1000 genomes]
rs11812007	1.00[EUR][1000 genomes]
rs13374584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1499284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846494	1.00[EUR][1000 genomes]
rs16847675	1.00[EUR][1000 genomes]
rs16847784	1.00[EUR][1000 genomes]
rs16847858	1.00[EUR][1000 genomes]
rs16847870	1.00[EUR][1000 genomes]
rs16847871	1.00[EUR][1000 genomes]
rs16849419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16849547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1857042	1.00[EUR][1000 genomes]
rs2068945	1.00[EUR][1000 genomes]
rs2794805	1.00[EUR][1000 genomes]
rs4653586	1.00[EUR][1000 genomes]
rs55712053	1.00[EUR][1000 genomes]
rs56081029	1.00[AMR][1000 genomes]
rs57719044	1.00[EUR][1000 genomes]
rs57967341	1.00[EUR][1000 genomes]
rs58304668	1.00[EUR][1000 genomes]
rs58649883	1.00[EUR][1000 genomes]
rs58788859	1.00[EUR][1000 genomes]
rs58814229	1.00[EUR][1000 genomes]
rs59034185	1.00[EUR][1000 genomes]
rs59577766	1.00[EUR][1000 genomes]
rs59710928	1.00[EUR][1000 genomes]
rs60349703	1.00[EUR][1000 genomes]
rs60627429	1.00[EUR][1000 genomes]
rs60715845	1.00[EUR][1000 genomes]
rs60831135	1.00[EUR][1000 genomes]
rs61000820	1.00[EUR][1000 genomes]
rs61155217	1.00[EUR][1000 genomes]
rs61278437	1.00[EUR][1000 genomes]
rs6426149	1.00[AMR][1000 genomes]
rs6658918	1.00[EUR][1000 genomes]
rs6659109	1.00[EUR][1000 genomes]
rs6674133	1.00[EUR][1000 genomes]
rs6676850	1.00[AMR][1000 genomes]
rs6679959	1.00[AMR][1000 genomes]
rs6681611	1.00[EUR][1000 genomes]
rs6687424	1.00[EUR][1000 genomes]
rs6690547	1.00[AMR][1000 genomes]
rs6691181	1.00[EUR][1000 genomes]
rs6702649	1.00[EUR][1000 genomes]
rs6702972	1.00[EUR][1000 genomes]
rs73121865	1.00[EUR][1000 genomes]
rs73123788	1.00[EUR][1000 genomes]
rs73123791	1.00[EUR][1000 genomes]
rs73125526	1.00[EUR][1000 genomes]
rs73125529	1.00[EUR][1000 genomes]
rs73133345	1.00[EUR][1000 genomes]
rs74146264	1.00[EUR][1000 genomes]
rs74146372	1.00[EUR][1000 genomes]
rs74146374	1.00[EUR][1000 genomes]
rs74146377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74146381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74146382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74146383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74146384	1.00[EUR][1000 genomes]
rs74146389	1.00[EUR][1000 genomes]
rs7512165	1.00[EUR][1000 genomes]
rs7554221	1.00[AMR][1000 genomes]
rs9661679	1.00[EUR][1000 genomes]
rs9661938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9729870	1.00[AMR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3378869	chr1:224738579-224742077	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224731600-224746400	Weak transcription	Psoas Muscle	Psoas
2	chr1:224736800-224746400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:224740000-224762200	Weak transcription	Ovary	ovary
4	chr1:224741000-224742000	Enhancers	NHDF-Ad	bronchial
5	chr1:224741200-224742000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:224741200-224742600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:224741200-224742600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:224741200-224743000	Enhancers	NHEK	skin
9	chr1:224741400-224751400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:224741600-224742200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:224741800-224742000	Enhancers	Pancreas	Pancrea
12	chr1:224741800-224742000	Enhancers	Sigmoid Colon	Sigmoid Colon

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