Variant report

Variant	rs2057384
Chromosome Location	chr1:185837225-185837226
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185836059..185838961-chr1:185847676..185850629,2	K562	blood:
2	chr1:185833568..185835338-chr1:185836203..185838927,2	K562	blood:
3	chr1:185836078..185838811-chr1:185838909..185840717,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10911781	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1124757	0.90[EUR][1000 genomes]
rs11581777	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11807146	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12057982	0.93[EUR][1000 genomes]
rs12063964	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12078015	0.88[EUR][1000 genomes]
rs12078444	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12079064	0.88[EUR][1000 genomes]
rs12087032	0.84[EUR][1000 genomes]
rs12098116	0.81[EUR][1000 genomes]
rs1321669	0.87[EUR][1000 genomes]
rs1321670	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1322362	0.90[EUR][1000 genomes]
rs13374445	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13376668	0.86[EUR][1000 genomes]
rs1407429	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1407430	0.85[EUR][1000 genomes]
rs1407431	0.88[EUR][1000 genomes]
rs16824516	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16824564	0.97[EUR][1000 genomes]
rs16824576	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17447869	0.93[EUR][1000 genomes]
rs17448202	0.95[EUR][1000 genomes]
rs17448216	0.94[EUR][1000 genomes]
rs17448230	0.97[EUR][1000 genomes]
rs17505819	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17507044	0.86[EUR][1000 genomes]
rs17507170	0.94[EUR][1000 genomes]
rs1951517	0.81[EUR][1000 genomes]
rs2057381	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2057382	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2057383	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2057385	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2129125	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2170859	0.86[EUR][1000 genomes]
rs2220128	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35314812	0.83[EUR][1000 genomes]
rs41458549	0.94[EUR][1000 genomes]
rs4651287	0.81[EUR][1000 genomes]
rs4651288	0.91[EUR][1000 genomes]
rs57398679	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57686227	0.97[EUR][1000 genomes]
rs61829860	0.88[EUR][1000 genomes]
rs6660510	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6667316	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6692479	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs726777	0.95[ASN][1000 genomes]
rs7544533	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9628625	0.84[EUR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:185803200-185850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185813400-185839000	Weak transcription	Fetal Lung	lung
3	chr1:185827200-185841200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:185834400-185837800	Weak transcription	Esophagus	oesophagus
5	chr1:185834400-185839000	Weak transcription	Left Ventricle	heart
6	chr1:185834600-185848200	Weak transcription	Aorta	Aorta
7	chr1:185834800-185838800	Weak transcription	NHDF-Ad	bronchial
8	chr1:185835000-185837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:185835000-185838400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:185835400-185841200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:185836200-185837400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:185836600-185841000	Weak transcription	Placenta Amnion	Placenta Amnion

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