Variant report

Variant	rs7001026
Chromosome Location	chr8:125742881-125742882
allele	C/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:9)

rs_ID	r²[population]
rs11986350	1.00[EUR][1000 genomes]
rs16900004	1.00[EUR][1000 genomes]
rs57412581	1.00[EUR][1000 genomes]
rs60882869	1.00[EUR][1000 genomes]
rs6990550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999319	1.00[EUR][1000 genomes]
rs7006832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347655	1.00[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv612147	chr8:125733120-125751065	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125739000-125743400	Weak transcription	K562	blood
2	chr8:125741000-125743600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:125741200-125744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:125741200-125746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:125741400-125743600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:125741400-125747000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:125741600-125743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:125741600-125743200	Enhancers	Brain Germinal Matrix	brain
9	chr8:125741600-125743600	Weak transcription	Placenta	Placenta
10	chr8:125741600-125746800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:125741600-125748400	Weak transcription	Psoas Muscle	Psoas
12	chr8:125742400-125745800	Weak transcription	Spleen	Spleen
13	chr8:125742600-125746800	Weak transcription	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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