Variant report

Variant	rs11954059
Chromosome Location	chr5:96440176-96440177
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	chr5:96438791..96440581-chr5:96475884..96478503,2	K562	blood:

Variant related genes	Relation type
ENSG00000145721	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10039917	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10043135	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10071737	0.97[ASN][1000 genomes]
rs1035507	0.99[ASN][1000 genomes]
rs10463198	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs12520374	0.94[ASN][1000 genomes]
rs13167790	0.96[ASN][1000 genomes]
rs182625	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287903	0.99[ASN][1000 genomes]
rs2544769	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2544776	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs316178	0.97[ASN][1000 genomes]
rs316190	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs316202	0.95[ASN][1000 genomes]
rs316203	0.96[ASN][1000 genomes]
rs316204	0.96[ASN][1000 genomes]
rs316205	0.96[ASN][1000 genomes]
rs316207	0.82[JPT][hapmap]
rs316209	0.88[JPT][hapmap]
rs316213	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs316217	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316218	0.98[ASN][1000 genomes]
rs316219	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs316223	0.84[ASN][1000 genomes]
rs316224	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs316232	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs389536	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs392723	0.81[ASN][1000 genomes]
rs444243	0.98[ASN][1000 genomes]
rs6556945	0.84[ASN][1000 genomes]
rs7717829	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96432800-96445600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:96435000-96447400	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:96437200-96441400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr5:96437600-96441800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:96438000-96441600	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:96438200-96440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:96438200-96440800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:96438200-96441800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:96438200-96442000	Weak transcription	Fetal Stomach	stomach
10	chr5:96438400-96441800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:96438400-96443600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:96438600-96442000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:96438600-96454800	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:96439200-96441800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:96440000-96440200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:96440000-96443200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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