Variant report

Variant	rs57686227
Chromosome Location	chr1:185828869-185828870
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	chr1:185827279..185829973-chr1:185830358..185832032,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1124757	0.89[EUR][1000 genomes]
rs11581777	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11807146	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12057982	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12063964	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12078015	0.89[EUR][1000 genomes]
rs12079064	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12087032	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12098116	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1321668	0.81[EUR][1000 genomes]
rs1321669	0.86[EUR][1000 genomes]
rs1321670	0.82[EUR][1000 genomes]
rs1322359	0.81[EUR][1000 genomes]
rs1322362	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1322364	0.81[EUR][1000 genomes]
rs13374445	0.89[EUR][1000 genomes]
rs13376668	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1407429	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1407430	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1407431	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824516	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16824564	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824576	0.98[EUR][1000 genomes]
rs17446906	0.81[EUR][1000 genomes]
rs17447869	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17448202	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17448216	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17448230	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17505819	0.91[EUR][1000 genomes]
rs17507044	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17507170	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1951517	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057381	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057382	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057383	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057384	0.97[EUR][1000 genomes]
rs2057385	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2129125	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2170859	0.88[EUR][1000 genomes]
rs2220128	0.81[EUR][1000 genomes]
rs35314812	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41458549	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515745	0.81[EUR][1000 genomes]
rs4593772	0.80[EUR][1000 genomes]
rs4651288	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61829860	0.89[EUR][1000 genomes]
rs6660510	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6692479	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7414598	0.81[EUR][1000 genomes]
rs7544533	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9628625	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[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	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:27 , 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	chr1:185819800-185829600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:185820400-185830200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:185820400-185830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:185820600-185831000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:185823200-185831600	Weak transcription	NHLF	lung
8	chr1:185823400-185834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:185823600-185833600	Weak transcription	HMEC	breast
10	chr1:185823800-185829000	Weak transcription	NH-A	brain
11	chr1:185824400-185829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:185824400-185830200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:185825000-185831000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:185826600-185829200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:185826800-185829600	Weak transcription	Osteobl	bone
16	chr1:185826800-185831000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:185827000-185829600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:185827000-185829800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:185827000-185830000	Weak transcription	A549	lung
20	chr1:185827000-185833000	Weak transcription	Aorta	Aorta
21	chr1:185827200-185841200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:185827400-185829600	Weak transcription	NHDF-Ad	bronchial
23	chr1:185828000-185829800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:185828200-185829600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:185828200-185833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:185828200-185833600	Weak transcription	NHEK	skin
27	chr1:185828600-185829800	Weak transcription	Hela-S3	cervix

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