Variant report

Variant	rs17008241
Chromosome Location	chr2:72768913-72768914
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10496184	0.86[CEU][hapmap]
rs10496185	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11126369	0.86[CEU][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs11126378	1.00[CEU][hapmap]
rs11675268	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs11685876	0.86[CEU][hapmap]
rs11689339	1.00[CEU][hapmap]
rs11689707	1.00[CEU][hapmap];0.80[YRI][hapmap];0.81[EUR][1000 genomes]
rs11695000	0.86[CEU][hapmap]
rs11884162	0.86[CEU][hapmap]
rs11884266	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs11892598	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1562361	0.85[CEU][hapmap]
rs17008186	0.86[CEU][hapmap]
rs17008208	0.85[CEU][hapmap]
rs17008293	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17008315	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs17008360	0.86[CEU][hapmap]
rs17008369	0.86[CEU][hapmap]
rs17008371	0.85[CEU][hapmap]
rs17263172	0.86[CEU][hapmap]
rs1949377	0.86[CEU][hapmap]
rs2901190	0.86[CEU][hapmap]
rs57192957	0.85[EUR][1000 genomes]
rs58967293	0.82[EUR][1000 genomes]
rs60325013	0.95[EUR][1000 genomes]
rs60580301	0.82[EUR][1000 genomes]
rs6711701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6713143	0.85[CEU][hapmap]
rs6713712	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6739768	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6740390	1.00[CEU][hapmap]
rs6749495	0.85[EUR][1000 genomes]
rs67535553	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6756070	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs67970313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72845185	0.88[EUR][1000 genomes]
rs7557942	0.85[CEU][hapmap]
rs7571517	0.85[CEU][hapmap]
rs7573417	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7577244	0.86[CEU][hapmap]
rs7604083	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7604818	0.93[CEU][hapmap];0.99[EUR][1000 genomes]
rs764766	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72760400-72769800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:72761400-72783000	Weak transcription	Aorta	Aorta
3	chr2:72762600-72770200	Weak transcription	Fetal Heart	heart
4	chr2:72766400-72769400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:72766400-72775600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:72766400-72782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:72766600-72773600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:72766600-72774600	Weak transcription	Fetal Lung	lung
9	chr2:72766600-72786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:72766800-72770000	Weak transcription	HUVEC	blood vessel
11	chr2:72766800-72770200	Weak transcription	HMEC	breast
12	chr2:72766800-72774000	Weak transcription	A549	lung
13	chr2:72766800-72781400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:72766800-72788000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:72766800-72788600	Weak transcription	NH-A	brain
16	chr2:72766800-72789200	Weak transcription	NHEK	skin
17	chr2:72767600-72769600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:72768400-72770400	Enhancers	K562	blood
19	chr2:72768800-72786800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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