Variant report

Variant	rs9944802
Chromosome Location	chr18:11797029-11797030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10048315	0.92[ASN][1000 genomes]
rs10048316	0.92[ASN][1000 genomes]
rs10153319	0.89[ASN][1000 genomes]
rs10164166	0.91[ASN][1000 genomes]
rs10401100	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10401123	0.98[ASN][1000 genomes]
rs10468681	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11080534	0.93[ASN][1000 genomes]
rs12457787	0.90[ASN][1000 genomes]
rs12606210	0.95[ASN][1000 genomes]
rs12608311	0.95[ASN][1000 genomes]
rs12962767	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12965108	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12965256	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1364632	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1364633	0.89[ASN][1000 genomes]
rs1477481	0.95[ASN][1000 genomes]
rs1477482	0.95[ASN][1000 genomes]
rs16976671	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2161961	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4239301	0.89[ASN][1000 genomes]
rs57498102	0.88[ASN][1000 genomes]
rs57555937	0.91[ASN][1000 genomes]
rs57940204	0.91[ASN][1000 genomes]
rs58285951	0.88[ASN][1000 genomes]
rs58359702	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58935072	0.90[ASN][1000 genomes]
rs59661164	0.88[ASN][1000 genomes]
rs61636989	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs71172021	0.84[ASN][1000 genomes]
rs7240632	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7240684	0.89[ASN][1000 genomes]
rs72865283	0.90[ASN][1000 genomes]
rs72865294	0.93[ASN][1000 genomes]
rs72867020	0.98[ASN][1000 genomes]
rs72867032	0.99[ASN][1000 genomes]
rs72867073	0.89[ASN][1000 genomes]
rs73403552	0.92[ASN][1000 genomes]
rs8098496	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9303748	0.99[ASN][1000 genomes]
rs9303749	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9944667	0.82[ASN][1000 genomes]
rs9945211	0.89[ASN][1000 genomes]
rs9962277	0.99[ASN][1000 genomes]
rs9972997	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
2	chr18:11785600-11802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:11785800-11805200	Weak transcription	Brain Anterior Caudate	brain
4	chr18:11789400-11807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:11790600-11809600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:11791400-11798000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:11791600-11798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:11791800-11806600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:11792000-11798400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr18:11792000-11798400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr18:11792000-11805800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:11796200-11806600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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