Variant report

Variant	rs11743934
Chromosome Location	chr5:126792431-126792432
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126786509..126788293-chr5:126790460..126792732,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10519936	1.00[CEU][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs10519937	1.00[CEU][hapmap]
rs10519938	1.00[CEU][hapmap]
rs11949330	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11950427	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11952366	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11952552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11959505	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12233927	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12234066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1363388	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1363631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1422318	1.00[CEU][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes]
rs1593949	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1593950	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17164902	0.91[EUR][1000 genomes]
rs17164903	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17164915	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17164935	0.85[CEU][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs17164995	0.86[CEU][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs17164996	0.85[CEU][hapmap]
rs17165090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604615	0.85[CEU][hapmap]
rs17604665	0.86[CEU][hapmap]
rs17604889	0.85[CEU][hapmap]
rs17673685	0.85[CEU][hapmap]
rs17839693	1.00[CEU][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes]
rs17839695	0.86[CEU][hapmap]
rs2173978	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2408871	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2408873	0.97[EUR][1000 genomes]
rs2434620	0.95[EUR][1000 genomes]
rs2898044	0.88[EUR][1000 genomes]
rs3756721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812055	0.85[CEU][hapmap]
rs3844184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3851469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3909351	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4395678	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4604231	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4637594	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55663031	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55763657	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56006993	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57411417	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59745967	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60153933	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60901740	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61175766	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595767	0.85[CEU][hapmap]
rs6595769	0.85[CEU][hapmap]
rs67425941	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6874521	0.86[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs6874752	0.82[EUR][1000 genomes]
rs6881894	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6886487	0.83[EUR][1000 genomes]
rs72790422	0.82[EUR][1000 genomes]
rs72790424	0.82[EUR][1000 genomes]
rs72790426	0.82[EUR][1000 genomes]
rs72790443	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7700469	0.98[EUR][1000 genomes];0.81[ASN][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	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126778000-126795400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:126781800-126794800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:126782600-126795200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126783200-126794000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:126783400-126795600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:126783800-126797200	Weak transcription	HSMM	muscle
9	chr5:126785200-126797000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:126785400-126794800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:126786000-126797600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:126787400-126793400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:126788800-126797800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:126789400-126797000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:126789800-126797000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:126790200-126793400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:126790200-126797200	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:126790400-126793000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:126791400-126792800	Weak transcription	HSMMtube	muscle
21	chr5:126791400-126797200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:126791600-126792800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:126792200-126793400	Strong transcription	Brain Anterior Caudate	brain
24	chr5:126792400-126793200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr5:126792400-126793400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:126792400-126793400	Strong transcription	Fetal Muscle Leg	muscle

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