Variant report

Variant	rs17135454
Chromosome Location	chr5:112551508-112551509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10428666	0.84[EUR][1000 genomes]
rs10519343	0.82[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10519346	0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11241197	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs11740190	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740233	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740318	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740353	0.82[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740443	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11741794	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11741937	0.89[EUR][1000 genomes]
rs11746532	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11746791	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748058	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748465	0.82[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748503	0.84[EUR][1000 genomes]
rs11748524	0.82[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11749864	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12186466	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188069	0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188070	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188230	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12521391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12522683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12522862	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12523027	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs12523284	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17135463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17135506	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135507	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135514	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135515	0.82[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135517	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135519	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135520	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135526	0.82[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135531	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135546	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs17164185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1845289	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1850410	0.89[EUR][1000 genomes]
rs1850411	0.81[EUR][1000 genomes]
rs1997521	0.90[CHD][hapmap]
rs2068923	1.00[GIH][hapmap]
rs34271294	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4632792	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4705549	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705810	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56294433	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60437559	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6594695	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6594696	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6594697	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6879761	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6887565	0.90[CHD][hapmap]
rs73244759	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73244767	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73244770	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73244772	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73246604	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73246629	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73246681	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7703865	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7707127	0.83[YRI][hapmap]
rs971370	0.90[CHD][hapmap]
rs971371	0.90[CHD][hapmap]
rs977997	0.90[CHD][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112539200-112554000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112540800-112553400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:112542000-112553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112542000-112553400	Weak transcription	Lung	lung
5	chr5:112546600-112551800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:112546600-112555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:112546800-112552800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:112546800-112553800	Enhancers	Ovary	ovary
9	chr5:112547200-112551800	Enhancers	Adipose Nuclei	Adipose
10	chr5:112547200-112553200	Enhancers	Fetal Heart	heart
11	chr5:112547200-112555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:112547800-112552400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:112547800-112555600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:112547800-112555800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:112548000-112552000	Enhancers	Placenta	Placenta
16	chr5:112548000-112552800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:112548000-112555600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:112548200-112552200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:112548200-112552200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:112548200-112552800	Enhancers	NHEK	skin
21	chr5:112548400-112553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
23	chr5:112548600-112553400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:112548600-112554000	Weak transcription	HUVEC	blood vessel
25	chr5:112548800-112553200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:112549000-112554000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:112549400-112551600	Weak transcription	HMEC	breast
28	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:112549800-112552800	Weak transcription	Liver	Liver
30	chr5:112550000-112553200	Weak transcription	Fetal Stomach	stomach
31	chr5:112550000-112553400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:112550000-112556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:112550200-112551600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:112550200-112552600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:112550200-112552800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:112550200-112553400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:112550200-112553400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:112550200-112553400	Weak transcription	Fetal Brain Male	brain
39	chr5:112550200-112553400	Weak transcription	Fetal Lung	lung
40	chr5:112550200-112553400	Weak transcription	Psoas Muscle	Psoas
41	chr5:112550200-112559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:112550600-112551600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:112550600-112551800	Weak transcription	Brain Substantia Nigra	brain
44	chr5:112550600-112553200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:112550600-112553200	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:112550600-112558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:112550800-112553200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:112551000-112551600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:112551000-112553600	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:112551000-112556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links