Variant report

Variant	rs2019338
Chromosome Location	chr8:122144220-122144221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10956002	0.93[EUR][1000 genomes]
rs10956003	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10956004	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17201978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17204209	1.00[AFR][1000 genomes]
rs17261452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17262162	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28675872	0.91[EUR][1000 genomes]
rs4367550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4584147	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60715997	0.99[EUR][1000 genomes]
rs6984162	0.94[EUR][1000 genomes]
rs73320943	0.94[EUR][1000 genomes]
rs73320945	0.94[EUR][1000 genomes]
rs73707537	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:122141400-122144400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr8:122142000-122146800	Enhancers	Fetal Lung	lung
3	chr8:122142600-122144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:122143400-122145200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:122143400-122145600	Enhancers	Fetal Muscle Leg	muscle
6	chr8:122143400-122147600	Enhancers	Fetal Stomach	stomach
7	chr8:122143600-122144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:122143800-122144800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:122143800-122145000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:122144000-122144600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:122144200-122144800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:122144200-122145000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:122144200-122145000	Enhancers	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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