Variant report

Variant	rs28844999
Chromosome Location	chr18:9325624-9325625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9324675..9326471-chr18:9332676..9335507,2	K562	blood:

Variant related genes	Relation type
ENSG00000128791	Chromatin interaction
ENSG00000264964	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1046483	0.93[ASN][1000 genomes]
rs10502391	0.86[ASN][1000 genomes]
rs1114591	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11659948	0.86[ASN][1000 genomes]
rs12326829	0.86[ASN][1000 genomes]
rs1443597	0.86[ASN][1000 genomes]
rs1443598	0.86[ASN][1000 genomes]
rs16954886	0.86[ASN][1000 genomes]
rs16954905	0.86[ASN][1000 genomes]
rs16954914	0.86[ASN][1000 genomes]
rs17498752	0.86[ASN][1000 genomes]
rs17498969	0.86[ASN][1000 genomes]
rs17499116	0.86[ASN][1000 genomes]
rs1899668	0.86[ASN][1000 genomes]
rs2120316	0.86[ASN][1000 genomes]
rs28520663	0.86[ASN][1000 genomes]
rs28619483	0.93[ASN][1000 genomes]
rs28637808	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2864515	0.82[ASN][1000 genomes]
rs28820062	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213925	0.86[ASN][1000 genomes]
rs3744822	0.86[ASN][1000 genomes]
rs3744823	0.86[ASN][1000 genomes]
rs4356535	0.86[ASN][1000 genomes]
rs4449017	0.83[ASN][1000 genomes]
rs4490062	0.82[ASN][1000 genomes]
rs5011606	0.86[ASN][1000 genomes]
rs56996721	0.82[ASN][1000 genomes]
rs57567668	0.93[ASN][1000 genomes]
rs59018067	0.86[ASN][1000 genomes]
rs59616258	0.86[ASN][1000 genomes]
rs59633812	0.86[ASN][1000 genomes]
rs59864974	0.93[ASN][1000 genomes]
rs60119987	0.86[ASN][1000 genomes]
rs60143204	0.82[ASN][1000 genomes]
rs60354371	0.86[ASN][1000 genomes]
rs62085951	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087470	0.80[ASN][1000 genomes]
rs6506651	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229105	0.82[ASN][1000 genomes]
rs7234017	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7235358	0.86[ASN][1000 genomes]
rs7237039	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242002	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242624	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937244	0.82[ASN][1000 genomes]
rs72937245	0.82[ASN][1000 genomes]
rs72937248	0.82[ASN][1000 genomes]
rs72937250	0.82[ASN][1000 genomes]
rs72937258	0.86[ASN][1000 genomes]
rs72937259	0.86[ASN][1000 genomes]
rs72937263	0.86[ASN][1000 genomes]
rs72937267	0.86[ASN][1000 genomes]
rs72937270	0.86[ASN][1000 genomes]
rs72937287	0.86[ASN][1000 genomes]
rs72937291	0.86[ASN][1000 genomes]
rs72937297	0.86[ASN][1000 genomes]
rs72937301	0.86[ASN][1000 genomes]
rs72937302	0.86[ASN][1000 genomes]
rs72939207	0.86[ASN][1000 genomes]
rs72939211	0.86[ASN][1000 genomes]
rs72939216	0.86[ASN][1000 genomes]
rs72939219	0.86[ASN][1000 genomes]
rs72939220	0.86[ASN][1000 genomes]
rs72939221	0.86[ASN][1000 genomes]
rs72939224	0.86[ASN][1000 genomes]
rs72939227	0.86[ASN][1000 genomes]
rs72939230	0.86[ASN][1000 genomes]
rs72939231	0.86[ASN][1000 genomes]
rs72939232	0.86[ASN][1000 genomes]
rs72939235	0.86[ASN][1000 genomes]
rs72939239	0.86[ASN][1000 genomes]
rs7506375	0.86[ASN][1000 genomes]
rs8089057	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096630	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098516	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098544	0.86[ASN][1000 genomes]
rs8099583	0.86[ASN][1000 genomes]
rs9748485	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv3500936	chr18:9322852-9328450	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3500942	chr18:9323302-9328300	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3316475	chr18:9324035-9327395	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3500937	chr18:9324072-9327365	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv3316471	chr18:9324083-9327403	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3500938	chr18:9324084-9327353	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3316473	chr18:9324086-9327367	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3316472	chr18:9324095-9327370	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3500941	chr18:9324120-9327335	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv3500939	chr18:9324169-9327294	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3316476	chr18:9324173-9327292	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv3500943	chr18:9324173-9327292	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9320200-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:9320600-9333400	Weak transcription	Aorta	Aorta
3	chr18:9321000-9325800	Weak transcription	Placenta	Placenta
4	chr18:9321800-9333600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:9321800-9333600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:9323000-9328200	Weak transcription	Fetal Lung	lung
7	chr18:9324400-9333400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:9324600-9329400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:9324600-9334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:9324800-9328000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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