Variant report

Variant	rs17127897
Chromosome Location	chr1:86026674-86026675
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17127887	1.00[ASN][1000 genomes]
rs17127904	0.92[ASN][1000 genomes]
rs17127916	0.92[ASN][1000 genomes]
rs17127933	0.92[ASN][1000 genomes]
rs17127949	0.83[ASN][1000 genomes]
rs7512713	0.83[ASN][1000 genomes]
rs7519002	0.92[ASN][1000 genomes]
rs9324150	0.92[ASN][1000 genomes]
rs9658588	0.92[ASN][1000 genomes]
rs9658592	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86011600-86035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:86017200-86032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:86019800-86034000	Weak transcription	Aorta	Aorta
4	chr1:86021200-86032400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:86021400-86032400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:86021400-86032400	Weak transcription	HUVEC	blood vessel
7	chr1:86021600-86028000	Weak transcription	HSMMtube	muscle
8	chr1:86021800-86034600	Weak transcription	Fetal Stomach	stomach
9	chr1:86022200-86026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:86022200-86028600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:86022200-86028600	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr1:86022200-86034000	Weak transcription	NHLF	lung
13	chr1:86022200-86034200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:86022200-86034400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:86022400-86032800	Strong transcription	HSMM	muscle
16	chr1:86023800-86033200	Strong transcription	Osteobl	bone
17	chr1:86024000-86028200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:86024200-86027000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:86024800-86026800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:86025400-86028400	Strong transcription	NH-A	brain
21	chr1:86025800-86034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:86026000-86026800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:86026000-86027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:86026200-86027400	Weak transcription	NHDF-Ad	bronchial
25	chr1:86026400-86027600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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