Variant report

Variant	rs7952593
Chromosome Location	chr11:85924395-85924396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12288262	1.00[CHB][hapmap]
rs17210259	0.95[AFR][1000 genomes]
rs17817659	0.95[AFR][1000 genomes]
rs2374699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2374700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2374701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3851185	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3851187	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3851188	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123456	0.81[YRI][hapmap];0.87[AFR][1000 genomes]
rs7127311	0.82[YRI][hapmap]
rs7128001	0.82[AFR][1000 genomes]
rs7128483	0.82[YRI][hapmap]
rs7128843	0.81[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7931056	0.82[YRI][hapmap]
rs7938966	0.91[YRI][hapmap];1.00[AFR][1000 genomes];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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85914000-85926200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:85917200-85928800	Weak transcription	Hela-S3	cervix
3	chr11:85919200-85925600	Weak transcription	Placenta	Placenta
4	chr11:85919600-85929200	Weak transcription	Right Atrium	heart
5	chr11:85920000-85925600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:85920400-85925800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:85921000-85925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:85921000-85929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:85921600-85929800	Weak transcription	Fetal Intestine Large	intestine
10	chr11:85921800-85929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:85923000-85925800	Enhancers	GM12878-XiMat	blood
12	chr11:85923400-85924400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:85923600-85925600	Weak transcription	K562	blood
14	chr11:85923600-85929200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:85923600-85929800	Weak transcription	NHEK	skin
16	chr11:85924200-85929200	Weak transcription	Primary T helper memory cells from peripheral blood 1	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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