Variant report

Variant	rs10797689
Chromosome Location	chr1:171974753-171974754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10911004	0.81[EUR][1000 genomes]
rs12029864	0.81[EUR][1000 genomes]
rs12075807	0.83[ASN][1000 genomes]
rs12091015	0.80[ASN][1000 genomes]
rs12760234	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1555381	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2104037	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2819525	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2819526	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2819527	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35665317	0.81[EUR][1000 genomes]
rs6670207	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9425847	0.86[AMR][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 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	chr1:171949000-171976000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:171968600-171975000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:171972600-171975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:171972800-171976800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:171973000-171976000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:171973000-171976200	Enhancers	HMEC	breast
7	chr1:171973200-171975400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:171973400-171976600	Enhancers	Brain Hippocampus Middle	brain
9	chr1:171973600-171975400	Enhancers	NHDF-Ad	bronchial
10	chr1:171973600-171979000	Weak transcription	NH-A	brain
11	chr1:171973800-171974800	Weak transcription	Fetal Kidney	kidney
12	chr1:171973800-171974800	Weak transcription	NHEK	skin
13	chr1:171973800-171975000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:171973800-171975000	Weak transcription	A549	lung
15	chr1:171973800-171975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:171974000-171975000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:171974000-171975200	Weak transcription	Brain Angular Gyrus	brain
18	chr1:171974000-171975800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:171974200-171974800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:171974200-171975400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:171974400-171974800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:171974600-171975400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:171974600-171975400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:171974600-171975400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:171974600-171975400	Enhancers	Liver	Liver

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