Variant report

Variant	rs73090939
Chromosome Location	chr1:227720451-227720452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56729613	1.00[AMR][1000 genomes]
rs57165236	1.00[AMR][1000 genomes]
rs57337697	1.00[AMR][1000 genomes]
rs58129384	1.00[AMR][1000 genomes]
rs58809314	1.00[AMR][1000 genomes]
rs59560829	1.00[AMR][1000 genomes]
rs59738832	1.00[AMR][1000 genomes]
rs60397612	1.00[AMR][1000 genomes]
rs60790626	1.00[AMR][1000 genomes]
rs61562662	1.00[AMR][1000 genomes]
rs61574768	1.00[AMR][1000 genomes]
rs61744724	1.00[AMR][1000 genomes]
rs6662722	1.00[AMR][1000 genomes]
rs6674377	1.00[AMR][1000 genomes]
rs73090918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090923	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7526007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7527737	1.00[AMR][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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv873247	chr1:227697381-227736363	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv945338	chr1:227712483-227722545	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227714200-227721800	ZNF genes & repeats	Liver	Liver
2	chr1:227715600-227721600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:227718000-227721000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr1:227718600-227723200	Weak transcription	Psoas Muscle	Psoas
5	chr1:227719400-227721000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:227719600-227720600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:227719600-227720800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:227719600-227720800	ZNF genes & repeats	Pancreas	Pancrea
9	chr1:227719800-227720600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:227719800-227720600	Enhancers	Hela-S3	cervix
11	chr1:227719800-227720800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:227719800-227720800	Enhancers	K562	blood
13	chr1:227719800-227721200	ZNF genes & repeats	Aorta	Aorta
14	chr1:227720000-227720800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:227720000-227722000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:227720200-227720800	ZNF genes & repeats	Left Ventricle	heart
17	chr1:227720200-227721000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr1:227720200-227721000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr1:227720200-227721200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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