Variant report

Variant	rs17115867
Chromosome Location	chr1:57954964-57954965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10493224	1.00[MEX][hapmap]
rs10493227	1.00[GIH][hapmap]
rs17115788	1.00[MEX][hapmap]
rs17115796	1.00[MEX][hapmap]
rs17115807	1.00[MEX][hapmap]
rs17115851	1.00[MEX][hapmap]
rs17115862	0.88[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs17115863	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115864	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17115871	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115882	1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691465	0.86[CHD][hapmap]
rs2691467	1.00[GIH][hapmap]
rs2793622	1.00[GIH][hapmap]
rs57951998	1.00[ASN][1000 genomes]
rs59727725	1.00[ASN][1000 genomes]
rs72911217	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57943200-57955200	Weak transcription	Stomach Mucosa	stomach
2	chr1:57952000-57955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:57953200-57955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:57954600-57955800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:57954600-57955800	Enhancers	HSMM	muscle
6	chr1:57954600-57955800	Enhancers	NHEK	skin
7	chr1:57954600-57956000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:57954600-57956000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:57954600-57956000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:57954600-57956000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:57954600-57956000	Enhancers	Hela-S3	cervix
12	chr1:57954600-57956000	Enhancers	NHLF	lung
13	chr1:57954600-57956200	Enhancers	NHDF-Ad	bronchial
14	chr1:57954800-57955200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:57954800-57955200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:57954800-57955400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:57954800-57955800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr1:57954800-57955800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:57954800-57955800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:57954800-57956000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:57954800-57956000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:57954800-57956000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:57954800-57956000	Enhancers	NH-A	brain
24	chr1:57954800-57956000	Enhancers	Osteobl	bone

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