Variant report

Variant	rs73128618
Chromosome Location	chr1:223028589-223028590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17163519	1.00[EUR][1000 genomes]
rs2378614	1.00[EUR][1000 genomes]
rs28834670	1.00[EUR][1000 genomes]
rs73126884	1.00[EUR][1000 genomes]
rs73126893	1.00[EUR][1000 genomes]
rs73126902	1.00[EUR][1000 genomes]
rs73128611	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128632	1.00[EUR][1000 genomes]
rs73128633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128635	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128639	1.00[EUR][1000 genomes]
rs73128643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128645	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128668	1.00[EUR][1000 genomes]
rs73128682	1.00[EUR][1000 genomes]
rs73128692	1.00[EUR][1000 genomes]
rs73130611	1.00[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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223013600-223030800	Weak transcription	Ovary	ovary
2	chr1:223017600-223042400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:223018200-223029600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:223018200-223029800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:223018200-223031000	Weak transcription	Fetal Kidney	kidney
6	chr1:223018400-223030400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:223021200-223031000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:223024000-223029200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:223024600-223029200	Weak transcription	Pancreas	Pancrea
10	chr1:223026400-223031000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:223026600-223029000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:223026800-223029000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:223026800-223038200	Weak transcription	Primary T cells from cord blood	blood
14	chr1:223027000-223041000	Weak transcription	Lung	lung
15	chr1:223027600-223028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:223028000-223029800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:223028000-223031000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:223028000-223034000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:223028400-223029200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:223028400-223029600	Weak transcription	Primary B cells from cord blood	blood
21	chr1:223028400-223031000	Weak transcription	Primary B cells from peripheral blood	blood

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