Variant report

Variant	rs7599020
Chromosome Location	chr2:100369676-100369677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11896272	1.00[AMR][1000 genomes]
rs4395293	0.82[AFR][1000 genomes]
rs57107769	0.86[AFR][1000 genomes]
rs57726776	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59404019	1.00[AMR][1000 genomes]
rs60241940	1.00[AMR][1000 genomes]
rs60482936	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6725598	1.00[AMR][1000 genomes]
rs6728654	1.00[AMR][1000 genomes]
rs6757959	0.81[AFR][1000 genomes]
rs72968221	1.00[AMR][1000 genomes]
rs72968233	1.00[AMR][1000 genomes]
rs7561590	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7569609	1.00[AMR][1000 genomes]
rs7578108	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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100346200-100379400	Weak transcription	Fetal Lung	lung
2	chr2:100356600-100370400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
4	chr2:100358200-100370000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:100358400-100370000	Weak transcription	Spleen	Spleen
6	chr2:100358400-100375400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:100358600-100370000	Weak transcription	NH-A	brain
8	chr2:100358800-100375600	Strong transcription	Primary B cells from cord blood	blood
9	chr2:100359600-100379200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:100360000-100383400	Weak transcription	Ovary	ovary
11	chr2:100360000-100394600	Weak transcription	Dnd41	blood
12	chr2:100360200-100385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:100360400-100371200	Weak transcription	Liver	Liver
14	chr2:100365000-100370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:100365000-100370000	Weak transcription	Gastric	stomach
16	chr2:100365200-100370000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:100365200-100379600	Weak transcription	Primary T cells from cord blood	blood
18	chr2:100367800-100386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:100369000-100370000	Weak transcription	Primary monocytes fromperipheralblood	blood

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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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