Variant report

Variant	rs4926556
Chromosome Location	chr1:47944812-47944813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12025418	0.87[EUR][1000 genomes]
rs12057975	0.81[EUR][1000 genomes]
rs12073605	0.81[EUR][1000 genomes]
rs6588397	0.85[EUR][1000 genomes]
rs6668106	0.86[EUR][1000 genomes]
rs6675690	0.86[EUR][1000 genomes]
rs7537074	0.81[EUR][1000 genomes]
rs7539808	0.81[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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47934400-47950600	Weak transcription	Right Atrium	heart
2	chr1:47936000-47945400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:47942000-47946800	Enhancers	Liver	Liver
4	chr1:47943800-47945200	Weak transcription	Fetal Kidney	kidney
5	chr1:47944000-47948400	Weak transcription	Lung	lung
6	chr1:47944200-47945800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr1:47944200-47945800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:47944200-47946800	Enhancers	Stomach Mucosa	stomach
9	chr1:47944400-47946000	Enhancers	A549	lung
10	chr1:47944400-47948600	Weak transcription	Adipose Nuclei	Adipose
11	chr1:47944600-47945400	Weak transcription	Colonic Mucosa	Colon
12	chr1:47944600-47947800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:47944800-47945200	Weak transcription	Pancreas	Pancrea
14	chr1:47944800-47945400	Weak transcription	Gastric	stomach

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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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