Variant report

Variant	rs59549445
Chromosome Location	chr18:11821048-11821049
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10468679	1.00[ASN][1000 genomes]
rs10468682	1.00[ASN][1000 genomes]
rs10502413	1.00[ASN][1000 genomes]
rs11872939	1.00[ASN][1000 genomes]
rs12373424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457247	1.00[ASN][1000 genomes]
rs1424913	1.00[ASN][1000 genomes]
rs1559579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976625	1.00[ASN][1000 genomes]
rs16976628	1.00[ASN][1000 genomes]
rs16976639	1.00[ASN][1000 genomes]
rs16976666	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16976687	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1834267	1.00[ASN][1000 genomes]
rs1941225	1.00[ASN][1000 genomes]
rs28666369	1.00[ASN][1000 genomes]
rs28688137	1.00[ASN][1000 genomes]
rs28696966	1.00[ASN][1000 genomes]
rs56314648	1.00[ASN][1000 genomes]
rs56819096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56861220	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57485078	1.00[ASN][1000 genomes]
rs57491632	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57878458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57958293	1.00[ASN][1000 genomes]
rs58144032	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58248860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58273499	1.00[ASN][1000 genomes]
rs58296571	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58471713	1.00[ASN][1000 genomes]
rs58617475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58829911	1.00[ASN][1000 genomes]
rs58991912	1.00[ASN][1000 genomes]
rs59099814	1.00[ASN][1000 genomes]
rs59286339	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59322585	1.00[ASN][1000 genomes]
rs59455765	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59624432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59870994	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59893403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59920321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60036326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60590666	1.00[ASN][1000 genomes]
rs61076914	1.00[ASN][1000 genomes]
rs6505675	1.00[ASN][1000 genomes]
rs7227117	1.00[ASN][1000 genomes]
rs7227259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397831	1.00[ASN][1000 genomes]
rs73397852	1.00[ASN][1000 genomes]
rs73397857	1.00[ASN][1000 genomes]
rs73397859	1.00[ASN][1000 genomes]
rs73397874	1.00[ASN][1000 genomes]
rs73399817	1.00[ASN][1000 genomes]
rs73399822	1.00[ASN][1000 genomes]
rs73399842	1.00[ASN][1000 genomes]
rs73401824	1.00[ASN][1000 genomes]
rs73401826	1.00[ASN][1000 genomes]
rs73401832	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73401838	1.00[ASN][1000 genomes]
rs73401844	1.00[ASN][1000 genomes]
rs73403525	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73403531	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73403540	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73403565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405491	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407416	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73407420	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73407440	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs787556	1.00[ASN][1000 genomes]
rs8085783	1.00[ASN][1000 genomes]
rs8089494	1.00[ASN][1000 genomes]
rs8095571	1.00[ASN][1000 genomes]
rs8095793	1.00[ASN][1000 genomes]
rs8098587	1.00[ASN][1000 genomes]
rs8099026	1.00[ASN][1000 genomes]
rs8099153	1.00[ASN][1000 genomes]
rs9303743	1.00[ASN][1000 genomes]
rs9303752	1.00[ASN][1000 genomes]
rs9646452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675502	1.00[ASN][1000 genomes]
rs9675734	1.00[ASN][1000 genomes]
rs9675736	1.00[ASN][1000 genomes]
rs9675750	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9676233	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9676238	1.00[ASN][1000 genomes]
rs9946157	1.00[ASN][1000 genomes]
rs9946455	1.00[ASN][1000 genomes]
rs9948287	1.00[ASN][1000 genomes]
rs9954486	1.00[ASN][1000 genomes]
rs9960175	1.00[ASN][1000 genomes]
rs9962057	1.00[ASN][1000 genomes]
rs9963594	1.00[ASN][1000 genomes]
rs9967080	1.00[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
2	chr18:11808000-11830600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:11817000-11821800	Weak transcription	Gastric	stomach
4	chr18:11817400-11823000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:11817600-11821400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:11819000-11821800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:11819200-11821800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:11820400-11824800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:11820600-11821600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:11820800-11821200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:11820800-11821600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:11820800-11821800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:11821000-11821200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:11821000-11823000	Weak transcription	K562	blood

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