Variant report

Variant	rs2057385
Chromosome Location	chr1:185837323-185837324
allele	C/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: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10911781	1.00[CHD][hapmap];0.88[GIH][hapmap];0.85[ASN][1000 genomes]
rs1124757	0.87[EUR][1000 genomes]
rs11581777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583867	0.95[CEU][hapmap];1.00[CHD][hapmap];0.85[MKK][hapmap];0.80[EUR][1000 genomes]
rs11807146	1.00[CEU][hapmap];0.85[CHD][hapmap];0.87[EUR][1000 genomes]
rs12057982	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12063964	0.89[EUR][1000 genomes]
rs12078015	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12078444	1.00[CHD][hapmap];0.88[GIH][hapmap];0.85[ASN][1000 genomes]
rs12079064	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12083564	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12085167	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12087032	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.80[TSI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12098116	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1321668	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1321669	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs1321670	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs1322359	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.80[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1322362	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1322364	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13374445	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13376668	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1407429	0.95[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs1407430	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.80[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1407431	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824516	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs16824564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824576	1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17446906	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17447869	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17448202	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17448216	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17448230	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17461534	0.83[CHD][hapmap]
rs17505819	0.95[CEU][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs17507044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17507170	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1951517	0.95[CEU][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057381	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057384	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2129125	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs2170859	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2220128	0.95[CEU][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap]
rs35314812	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35425624	0.82[CEU][hapmap];0.85[CHD][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.81[AMR][1000 genomes]
rs41357745	0.82[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap]
rs41458549	1.00[CHD][hapmap];0.96[LWK][hapmap];0.97[TSI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4515745	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4593772	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4651287	0.95[CEU][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap]
rs4651288	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57686227	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61829860	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61829884	0.82[EUR][1000 genomes]
rs61831528	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61831532	0.85[AMR][1000 genomes]
rs6660510	0.95[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs6667316	0.90[ASN][1000 genomes]
rs6692479	0.89[EUR][1000 genomes]
rs726777	0.84[ASN][1000 genomes]
rs7414598	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7544533	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs900775	0.85[CHD][hapmap]
rs9628625	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.89[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2057385	NMNAT2	cis	parietal	SCAN

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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