Variant report

Variant	rs72757029
Chromosome Location	chr1:226211314-226211315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17515010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6702795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72757063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226205600-226215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:226207800-226215400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:226209800-226214400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:226210200-226211400	Weak transcription	K562	blood
5	chr1:226210200-226215000	Weak transcription	Stomach Mucosa	stomach
6	chr1:226210200-226215200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:226210200-226215600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:226210400-226215000	Weak transcription	Fetal Intestine Small	intestine

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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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