Variant report

Variant	rs9312646
Chromosome Location	chr4:54684919-54684920
allele	A/C
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:6)

rs_ID	r²[population]
rs13124199	0.88[EUR][1000 genomes]
rs2133333	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898989	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4241977	0.85[EUR][1000 genomes]
rs4864829	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9686060	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879016	chr4:54638218-54710952	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv19126	chr4:54653249-54709054	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1014792	chr4:54655382-54768963	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537095	chr4:54655382-54768963	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:54680200-54685000	Enhancers	Fetal Lung	lung
2	chr4:54681200-54685000	Enhancers	Fetal Stomach	stomach
3	chr4:54683600-54685600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:54684000-54685000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:54684600-54685000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:54684800-54685200	Enhancers	Stomach Smooth Muscle	stomach
7	chr4:54684800-54687400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:54684800-54687400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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