Variant report

Variant	rs2088519
Chromosome Location	chr1:77962505-77962506
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1135921	1.00[AMR][1000 genomes]
rs1353727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100694	1.00[AMR][1000 genomes]
rs17100731	1.00[AMR][1000 genomes]
rs17100781	1.00[AMR][1000 genomes]
rs17100789	1.00[AMR][1000 genomes]
rs17100941	1.00[AMR][1000 genomes]
rs2047167	1.00[AMR][1000 genomes]
rs2256679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2291689	1.00[AMR][1000 genomes]
rs2647495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2647513	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803169	1.00[AMR][1000 genomes]
rs2803170	1.00[AMR][1000 genomes]
rs3104462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3104463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3112830	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:77955800-77964400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:77956000-77964600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:77956200-77964000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:77956200-77964200	Weak transcription	NHDF-Ad	bronchial
6	chr1:77956200-77964400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:77956200-77975600	Weak transcription	HSMMtube	muscle
8	chr1:77958200-77974800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:77958400-77974600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:77958600-77965000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:77958800-77974600	Weak transcription	Brain Anterior Caudate	brain
12	chr1:77958800-77974600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:77960000-77968000	Weak transcription	HSMM	muscle
14	chr1:77960000-77974600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:77960000-77974600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:77960800-77963800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:77960800-77964000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:77961200-77963200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:77961800-77963400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:77962000-77970200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:77962200-77963600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:77962400-77964200	Weak transcription	NHLF	lung
23	chr1:77962400-77964400	Weak transcription	Primary T cells from cord blood	blood

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