Variant report

Variant	rs1143726
Chromosome Location	chr1:45600340-45600341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11211075	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11211077	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11211080	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1143727	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1144866	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1144867	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1144870	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1144871	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1152017	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1152018	0.83[CEU][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1152020	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1152022	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11585488	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11588448	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1226722	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226723	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226727	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226728	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1226736	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1226740	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1226749	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1226911	0.85[AMR][1000 genomes]
rs1226912	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12750360	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16832411	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1698295	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1938302	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1938406	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2211644	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2356304	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2883902	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2997400	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2997462	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3009973	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3009976	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3009978	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3121731	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3121770	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3128437	0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3128443	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6429558	1.00[CEU][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6698681	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6700502	1.00[CEU][hapmap];0.89[YRI][hapmap];0.93[EUR][1000 genomes]
rs6702389	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68139854	0.97[EUR][1000 genomes]
rs7517524	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7528468	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7548075	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7552211	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:45590000-45627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45596600-45600400	Weak transcription	HepG2	liver
3	chr1:45600000-45600800	Enhancers	HUVEC	blood vessel
4	chr1:45600200-45600400	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:45600200-45600600	Enhancers	Brain Hippocampus Middle	brain
6	chr1:45600200-45600600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:45600200-45600600	Enhancers	Ovary	ovary
8	chr1:45600200-45600600	Enhancers	Small Intestine	intestine
9	chr1:45600200-45600600	Enhancers	Stomach Mucosa	stomach
10	chr1:45600200-45600600	Enhancers	Spleen	Spleen
11	chr1:45600200-45600600	Enhancers	A549	lung
12	chr1:45600200-45600800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:45600200-45600800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:45600200-45601000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:45600200-45601000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:45600200-45601000	Enhancers	Liver	Liver
17	chr1:45600200-45601000	Enhancers	Brain Substantia Nigra	brain
18	chr1:45600200-45601000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:45600200-45601200	Enhancers	Brain Anterior Caudate	brain
20	chr1:45600200-45601200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:45600200-45601600	Enhancers	Fetal Intestine Small	intestine
22	chr1:45600200-45601800	Enhancers	Fetal Intestine Large	intestine

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