Variant report

Variant	rs17604882
Chromosome Location	chr5:126742931-126742932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519936	0.85[CEU][hapmap]
rs10519938	0.85[CEU][hapmap]
rs11950427	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12233927	0.85[CEU][hapmap]
rs1363385	0.86[JPT][hapmap]
rs1363388	0.85[CEU][hapmap]
rs17164935	1.00[CEU][hapmap]
rs17165090	0.85[CEU][hapmap]
rs17444885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17604615	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17604665	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17673474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17673517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17673685	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17673995	0.94[EUR][1000 genomes]
rs17839690	0.82[EUR][1000 genomes]
rs2068168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2408871	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs3756721	0.85[CEU][hapmap]
rs3812053	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3812054	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844184	0.85[CEU][hapmap]
rs3851469	0.85[CEU][hapmap]
rs41298308	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41298312	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57256097	0.92[EUR][1000 genomes]
rs6595768	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6874752	0.83[EUR][1000 genomes]
rs6881894	0.85[CEU][hapmap]
rs6882034	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6892742	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72788576	0.80[ASN][1000 genomes]
rs72788578	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72788581	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72788599	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790410	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790412	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790417	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790418	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790419	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790422	0.83[EUR][1000 genomes]
rs72790424	0.83[EUR][1000 genomes]
rs72790426	0.83[EUR][1000 genomes]
rs72790428	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790430	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790433	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790438	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790444	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72790451	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72790460	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72790468	0.95[EUR][1000 genomes]
rs72790470	0.95[EUR][1000 genomes]
rs72790475	0.95[EUR][1000 genomes]
rs72790483	0.94[EUR][1000 genomes]
rs72790485	0.94[EUR][1000 genomes]
rs72790487	0.87[EUR][1000 genomes]
rs73786108	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7718640	0.94[EUR][1000 genomes]
rs7730171	0.91[EUR][1000 genomes]
rs7731380	0.95[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv526333	chr5:126732427-126746277	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126734800-126753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126737600-126743200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:126737600-126746400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:126738400-126743400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:126738600-126745000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:126738800-126746200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:126741200-126743400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:126741600-126743000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:126741600-126743600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:126741800-126743200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:126741800-126743200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:126742000-126743000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:126742000-126743000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:126742000-126743000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:126742000-126743000	Genic enhancers	Fetal Muscle Leg	muscle
17	chr5:126742000-126743000	Enhancers	Psoas Muscle	Psoas
18	chr5:126742000-126743000	Enhancers	HSMMtube	muscle
19	chr5:126742200-126743000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:126742200-126745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:126742200-126745800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:126742400-126744200	Weak transcription	Brain Substantia Nigra	brain
23	chr5:126742400-126745000	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:126742400-126745000	Weak transcription	HSMM	muscle
25	chr5:126742400-126746000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:126742400-126746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:126742600-126744600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:126742600-126744600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:126742600-126745200	Weak transcription	Brain Angular Gyrus	brain
30	chr5:126742600-126745800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:126742600-126745800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:126742800-126744400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:126742800-126745600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:126742800-126746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:126742800-126746800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:126742800-126754000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:126742800-126760200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:126742800-126762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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