Variant report

Variant	rs17196510
Chromosome Location	chr8:121989977-121989978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1433396	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1433398	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1560770	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1560772	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1613681	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1631704	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1655000	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1655006	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1714640	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1714643	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1714644	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1714645	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1714662	0.84[EUR][1000 genomes]
rs1714670	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043374	0.85[EUR][1000 genomes]
rs2570067	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs892306	0.88[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	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891425	chr8:121875083-122025559	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121987800-121990000	Enhancers	NHDF-Ad	bronchial
2	chr8:121988400-121990000	Enhancers	HMEC	breast
3	chr8:121988600-121990600	Enhancers	Fetal Lung	lung
4	chr8:121988600-121994000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:121988800-121990000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:121988800-121990400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:121989000-121990000	Enhancers	Fetal Kidney	kidney
8	chr8:121989200-121990000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:121989200-121990000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:121989400-121990200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:121989400-121990200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:121989400-121990200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:121989600-121990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:121989600-121990200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:121989600-121997800	Weak transcription	HSMM	muscle
16	chr8:121989800-121990000	Enhancers	HSMMtube	muscle
17	chr8:121989800-122001200	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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