Variant report

Variant	rs9488316
Chromosome Location	chr6:114386408-114386409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr6:114386048-114386505	HL-60	blood:	n/a	chr6:114386243-114386256

Variant related genes	Relation type
HS3ST5	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2275093	1.00[AMR][1000 genomes]
rs2475619	1.00[JPT][hapmap]
rs2475621	1.00[JPT][hapmap]
rs4551200	1.00[JPT][hapmap]
rs59475978	1.00[ASN][1000 genomes]
rs60751360	1.00[AMR][1000 genomes]
rs73536646	1.00[AMR][1000 genomes]
rs73536652	1.00[AMR][1000 genomes]
rs73548657	1.00[ASN][1000 genomes]
rs73550326	1.00[ASN][1000 genomes]
rs73550330	1.00[ASN][1000 genomes]
rs73550347	1.00[ASN][1000 genomes]
rs73550350	1.00[ASN][1000 genomes]
rs73552450	1.00[ASN][1000 genomes]
rs9398370	1.00[JPT][hapmap]
rs9481419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9488307	1.00[ASN][1000 genomes]
rs9488309	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9488315	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9488323	1.00[AMR][1000 genomes]
rs9488326	1.00[AMR][1000 genomes]
rs9488327	1.00[AMR][1000 genomes]
rs9488332	1.00[AMR][1000 genomes]
rs9488333	1.00[AMR][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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114370000-114387000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:114370200-114389600	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:114371400-114388200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:114379600-114390400	Weak transcription	HepG2	liver
5	chr6:114380800-114388000	Weak transcription	Psoas Muscle	Psoas
6	chr6:114383400-114390000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:114384000-114389600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:114384200-114389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:114384200-114389400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:114384200-114389600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:114384200-114389600	Weak transcription	Brain Substantia Nigra	brain
12	chr6:114384200-114390000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:114384200-114398200	Weak transcription	Brain Angular Gyrus	brain
14	chr6:114385000-114386600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:114385600-114387200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:114385600-114415800	Weak transcription	HSMM	muscle
17	chr6:114385800-114387000	Enhancers	GM12878-XiMat	blood
18	chr6:114385800-114389600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:114386000-114386800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:114386000-114388000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:114386200-114388200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:114386400-114387200	Enhancers	Brain Anterior Caudate	brain
23	chr6:114386400-114396600	Weak transcription	HSMMtube	muscle

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