Variant report

Variant	rs1541647
Chromosome Location	chr5:127195448-127195449
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17164599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164606	1.00[AMR][1000 genomes]
rs17164609	1.00[AMR][1000 genomes]
rs17164612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57060539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58888431	1.00[AMR][1000 genomes]
rs59036040	1.00[AMR][1000 genomes]
rs61021904	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347033	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:127188400-127203600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:127189800-127199600	Weak transcription	Small Intestine	intestine
3	chr5:127191600-127195800	Enhancers	Stomach Mucosa	stomach
4	chr5:127192600-127203200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127194000-127199200	Weak transcription	Aorta	Aorta
6	chr5:127194200-127198000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:127194200-127213800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:127194400-127195600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:127194400-127199000	Weak transcription	Fetal Intestine Large	intestine
10	chr5:127194600-127199000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:127194600-127199000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:127195000-127197400	Weak transcription	HUVEC	blood vessel
13	chr5:127195200-127196600	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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