Variant report

Variant	rs11954508
Chromosome Location	chr5:80859603-80859604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80853359..80856106-chr5:80858395..80860848,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10942267	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10942269	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10942270	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11740689	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11747277	0.95[ASN][1000 genomes]
rs11954000	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12515751	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12521909	0.96[ASN][1000 genomes]
rs13182474	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35438373	0.99[ASN][1000 genomes]
rs35586490	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4274955	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4283765	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4334855	0.96[ASN][1000 genomes]
rs4392600	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4426897	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4513668	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4529168	0.96[ASN][1000 genomes]
rs4599515	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4626317	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56005129	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62368675	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6452419	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66969660	0.99[ASN][1000 genomes]
rs6859225	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6866155	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6867426	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6869288	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6871860	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6874029	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6874274	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6880200	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6887194	0.96[ASN][1000 genomes]
rs6890850	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6891181	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6895882	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6896235	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7702047	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7709916	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7717663	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7720123	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7720736	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7721321	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7725320	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7735215	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv462221	chr5:80834138-80883110	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv598751	chr5:80834138-80883110	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv525225	chr5:80849084-80883110	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv2763467	chr5:80852616-80872981	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
3	chr5:80828800-80863400	Weak transcription	Fetal Lung	lung
4	chr5:80834400-80867000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:80834800-80866400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:80834800-80870000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:80835200-80863000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
9	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:80840800-80883400	Weak transcription	HSMM	muscle
12	chr5:80840800-80884600	Weak transcription	Ovary	ovary
13	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:80845800-80862000	Weak transcription	Thymus	Thymus
15	chr5:80845800-80863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:80846600-80860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
19	chr5:80850000-80860000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:80850000-80862000	Weak transcription	Primary B cells from cord blood	blood
21	chr5:80850200-80862000	Weak transcription	Primary T cells from cord blood	blood
22	chr5:80850800-80864000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:80850800-80866800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:80854200-80859800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:80854400-80862200	Weak transcription	Fetal Thymus	thymus
26	chr5:80856600-80860000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:80858800-80860400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:80859000-80863400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:80859600-80860600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:80859600-80861400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:80859600-80861600	Weak transcription	Dnd41	blood

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