Variant report

Variant	rs1951517
Chromosome Location	chr1:185813498-185813499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11581777	0.95[CEU][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11583867	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs11807146	0.95[CEU][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12057982	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12078015	0.85[AMR][1000 genomes]
rs12079064	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12083564	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12085167	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12087032	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098116	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1321668	0.81[AMR][1000 genomes]
rs1321669	0.91[CEU][hapmap]
rs1321670	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs1322359	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1322362	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1322364	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13374445	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13376668	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407429	0.91[CEU][hapmap]
rs1407430	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407431	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16824516	0.91[CEU][hapmap]
rs16824564	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16824576	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs17445778	1.00[CHB][hapmap]
rs17446906	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17447869	0.91[CEU][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17448202	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17448216	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17448230	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17505819	0.91[CEU][hapmap]
rs17507044	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17507170	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057381	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057382	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057383	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057384	0.81[EUR][1000 genomes]
rs2057385	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]
rs2129125	0.91[CEU][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2170859	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs2220128	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs35314812	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35425624	1.00[CHB][hapmap]
rs41357745	1.00[CHB][hapmap]
rs41458549	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4515745	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4593772	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4651287	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4651288	0.91[CEU][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57398679	0.81[EUR][1000 genomes]
rs57686227	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61829860	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61829884	0.87[EUR][1000 genomes]
rs61831528	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61831532	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6656530	1.00[CHB][hapmap]
rs6660510	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7414598	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7544533	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs900775	1.00[CHB][hapmap]
rs9628625	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs994970	1.00[CHB][hapmap]

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:22 , 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	chr1:185805600-185818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:185811800-185813800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:185811800-185813800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:185812000-185813600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:185812000-185813600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:185812000-185813800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:185812000-185813800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:185812200-185813600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:185812200-185813800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr1:185812600-185813600	Enhancers	Fetal Stomach	stomach
12	chr1:185812600-185813800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:185812800-185813600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:185813000-185813600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:185813400-185814000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:185813400-185815400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:185813400-185815800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:185813400-185817400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:185813400-185818000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:185813400-185819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:185813400-185821600	Weak transcription	Aorta	Aorta
22	chr1:185813400-185839000	Weak transcription	Fetal Lung	lung

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