Variant report

Variant	rs10982553
Chromosome Location	chr9:117898821-117898822
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10125663	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10817713	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335332	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414137	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1537015	0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1537016	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537720	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071520	0.88[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4979496	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7853883	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884290	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945256	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs945257	0.86[AMR][1000 genomes];0.85[EUR][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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117890200-117909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:117894800-117899200	Enhancers	NHDF-Ad	bronchial
3	chr9:117895200-117899400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:117895400-117900000	Enhancers	NHLF	lung
5	chr9:117895400-117903200	Weak transcription	Fetal Kidney	kidney
6	chr9:117896200-117899200	Enhancers	Rectal Smooth Muscle	rectum
7	chr9:117896200-117899800	Enhancers	Colon Smooth Muscle	Colon
8	chr9:117896600-117900400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:117896800-117899000	Enhancers	Stomach Smooth Muscle	stomach
10	chr9:117896800-117900200	Enhancers	Fetal Lung	lung
11	chr9:117897600-117899400	Enhancers	Fetal Muscle Leg	muscle
12	chr9:117897800-117905000	Weak transcription	Osteobl	bone
13	chr9:117898200-117900000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:117898400-117899000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:117898400-117905000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:117898600-117899600	Weak transcription	Fetal Heart	heart
17	chr9:117898600-117899800	Weak transcription	Spleen	Spleen
18	chr9:117898800-117899400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:117898800-117900000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:117898800-117900200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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