Variant report

Variant	rs17164185
Chromosome Location	chr5:112553874-112553875
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10428666	0.84[EUR][1000 genomes]
rs10519343	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10519346	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];0.89[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];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748503	0.84[EUR][1000 genomes]
rs11748524	0.82[CEU][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	0.86[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];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12522683	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12522862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12523027	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs12523284	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17135454	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]
rs17135463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][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];0.87[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];0.82[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]
rs1845289	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1850410	0.89[EUR][1000 genomes]
rs1850411	0.81[EUR][1000 genomes]
rs34271294	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4632792	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4705549	0.91[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]
rs73244759	0.93[AMR][1000 genomes];1.00[EUR][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	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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	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:65 , 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	chr5:112546600-112555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:112547200-112555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:112547800-112555600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:112547800-112555800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:112548000-112555600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
8	chr5:112548600-112554000	Weak transcription	HUVEC	blood vessel
9	chr5:112549000-112554000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:112550000-112556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:112550200-112559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:112550600-112558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:112551000-112556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:112551200-112554000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:112551400-112556600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:112551600-112555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:112551600-112559800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:112551800-112557000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:112551800-112557000	Weak transcription	NHDF-Ad	bronchial
21	chr5:112552000-112556800	Weak transcription	NH-A	brain
22	chr5:112552000-112557000	Weak transcription	HMEC	breast
23	chr5:112552200-112555000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:112552800-112554800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:112552800-112555400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:112552800-112556800	Weak transcription	NHEK	skin
27	chr5:112552800-112557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:112553000-112560200	Weak transcription	Brain Substantia Nigra	brain
29	chr5:112553200-112554000	Flanking Active TSS	Liver	Liver
30	chr5:112553200-112554200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:112553200-112554200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:112553200-112554200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:112553200-112554800	Flanking Active TSS	Fetal Heart	heart
34	chr5:112553200-112555200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:112553200-112555200	Enhancers	Fetal Muscle Leg	muscle
36	chr5:112553200-112555600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:112553200-112555600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:112553200-112555600	Enhancers	Fetal Stomach	stomach
39	chr5:112553200-112555800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:112553200-112555800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:112553400-112554000	Enhancers	Lung	lung
42	chr5:112553400-112554200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:112553400-112554200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:112553400-112554200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr5:112553400-112554200	Enhancers	Placenta	Placenta
46	chr5:112553400-112554200	Flanking Active TSS	Right Atrium	heart
47	chr5:112553400-112554400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:112553400-112554400	Enhancers	Fetal Brain Male	brain
49	chr5:112553400-112554400	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:112553400-112555200	Enhancers	Fetal Lung	lung

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