Variant report

Variant	rs56006993
Chromosome Location	chr5:126737186-126737187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126732573..126736586-chr5:126737004..126738980,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10519936	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10519937	0.85[EUR][1000 genomes]
rs10519938	0.85[EUR][1000 genomes]
rs11743934	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11949330	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11949373	0.84[EUR][1000 genomes]
rs11950058	0.84[EUR][1000 genomes]
rs11952366	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11952552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952947	0.84[EUR][1000 genomes]
rs11953024	0.84[EUR][1000 genomes]
rs11958435	0.84[EUR][1000 genomes]
rs11959505	0.87[EUR][1000 genomes]
rs12233927	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12234066	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363385	0.85[EUR][1000 genomes]
rs1363388	0.94[EUR][1000 genomes]
rs1363631	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1422318	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1529467	0.84[EUR][1000 genomes]
rs1593949	0.89[EUR][1000 genomes]
rs1593950	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17164902	0.81[EUR][1000 genomes]
rs17164903	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17164915	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17164979	0.84[EUR][1000 genomes]
rs17164995	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17164996	0.84[EUR][1000 genomes]
rs17165090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173509	0.82[EUR][1000 genomes]
rs17839693	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17839695	0.85[EUR][1000 genomes]
rs2173978	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2408873	0.88[EUR][1000 genomes]
rs2434620	0.88[EUR][1000 genomes]
rs2898044	0.82[EUR][1000 genomes]
rs3756721	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812055	0.85[EUR][1000 genomes]
rs3844184	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851469	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3909351	0.91[EUR][1000 genomes]
rs4395678	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4563674	0.84[EUR][1000 genomes]
rs4604231	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4637594	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55663031	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55763657	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57411417	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59745967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60153933	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60901740	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61175766	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6595764	0.85[EUR][1000 genomes]
rs6595767	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6595769	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs67200948	0.83[EUR][1000 genomes]
rs67425941	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67854568	0.84[EUR][1000 genomes]
rs68035691	0.84[EUR][1000 genomes]
rs6874392	0.84[EUR][1000 genomes]
rs6874521	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6881894	0.94[EUR][1000 genomes]
rs6886487	0.91[EUR][1000 genomes]
rs6888010	0.85[EUR][1000 genomes]
rs6891785	0.84[EUR][1000 genomes]
rs6897290	0.81[EUR][1000 genomes]
rs72790443	0.84[EUR][1000 genomes]
rs7700469	0.89[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126710200-126741200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:126720000-126742000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:126731800-126741800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:126731800-126742000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:126732000-126741200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:126732400-126741600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:126732600-126741800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:126732800-126737400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:126733200-126739400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:126734800-126753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:126735000-126737200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:126735600-126737400	Enhancers	HSMMtube	muscle
14	chr5:126735600-126737600	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:126735600-126737600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:126735600-126737800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:126735600-126738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:126735800-126737800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:126736000-126737400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:126736000-126737600	Enhancers	HSMM	muscle
21	chr5:126736000-126737600	Enhancers	NH-A	brain
22	chr5:126736200-126738600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:126736200-126741600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:126736600-126737200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:126736600-126737200	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:126736600-126737600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:126736600-126737800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:126736800-126737200	Enhancers	Brain Angular Gyrus	brain
29	chr5:126736800-126737200	Enhancers	Fetal Brain Female	brain
30	chr5:126736800-126738200	Enhancers	Brain Substantia Nigra	brain
31	chr5:126736800-126738400	Enhancers	Brain Hippocampus Middle	brain
32	chr5:126737000-126737200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:126737000-126737200	Enhancers	Brain Anterior Caudate	brain
34	chr5:126737000-126737600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:126737000-126742000	Weak transcription	Fetal Muscle Leg	muscle

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