Variant report

Variant	rs1118021
Chromosome Location	chr3:46168258-46168259
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46167391..46169192-chr3:46171465..46173672,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10510747	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12054287	0.89[CEU][hapmap];0.88[CHB][hapmap]
rs12485978	0.81[JPT][hapmap]
rs12486449	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13320534	0.87[CHB][hapmap]
rs13434141	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1491959	0.81[JPT][hapmap]
rs1491960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1546077	0.81[JPT][hapmap]
rs1546079	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1602580	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604068	0.82[ASN][1000 genomes]
rs17078567	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17078589	0.92[ASN][1000 genomes]
rs2036295	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2173639	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2888512	0.93[ASN][1000 genomes]
rs3796376	0.89[CEU][hapmap]
rs4490402	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4586860	0.93[ASN][1000 genomes]
rs4682804	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682805	0.91[ASN][1000 genomes]
rs4682807	0.93[ASN][1000 genomes]
rs4682810	0.81[JPT][hapmap]
rs4683169	0.89[EUR][1000 genomes]
rs4683174	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56800498	0.87[EUR][1000 genomes]
rs58035200	0.83[EUR][1000 genomes]
rs58260031	0.83[EUR][1000 genomes]
rs59865404	0.86[EUR][1000 genomes]
rs60539039	0.82[EUR][1000 genomes]
rs60991632	0.89[EUR][1000 genomes]
rs61066315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61254379	0.90[EUR][1000 genomes]
rs61387489	0.93[ASN][1000 genomes]
rs62242846	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62243869	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62243873	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62243875	0.86[EUR][1000 genomes]
rs62243876	0.86[EUR][1000 genomes]
rs62243906	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6778958	0.93[ASN][1000 genomes]
rs6795629	0.81[JPT][hapmap]
rs6807854	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs751625	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7623476	0.95[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs7641151	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7641164	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7643426	0.84[CEU][hapmap]
rs880160	0.93[ASN][1000 genomes]
rs9818635	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9849715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9856805	0.93[ASN][1000 genomes]
rs9990060	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46157200-46168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:46161400-46169400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:46162800-46168800	Weak transcription	HMEC	breast
4	chr3:46164000-46171000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr3:46165400-46170800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:46165800-46168600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:46165800-46169000	Weak transcription	Dnd41	blood
8	chr3:46166000-46170800	Weak transcription	Spleen	Spleen
9	chr3:46166200-46168600	Weak transcription	Hela-S3	cervix
10	chr3:46166200-46171200	Weak transcription	Primary B cells from cord blood	blood
11	chr3:46166400-46169000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:46166400-46170600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:46166600-46172600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:46166800-46168800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:46166800-46168800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:46166800-46171400	Weak transcription	Placenta	Placenta
17	chr3:46167000-46168400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:46167000-46168600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:46167000-46168800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:46167000-46169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:46167000-46171000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:46167000-46171800	Weak transcription	Adipose Nuclei	Adipose
23	chr3:46167000-46175600	Weak transcription	Fetal Lung	lung
24	chr3:46167800-46169000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:46167800-46170000	Enhancers	NHLF	lung
26	chr3:46168000-46169800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:46168200-46168600	Weak transcription	NHDF-Ad	bronchial

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