Variant report

Variant	rs3097919
Chromosome Location	chr4:124724218-124724219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1016592	0.85[EUR][1000 genomes]
rs1991839	0.86[EUR][1000 genomes]
rs3097909	0.86[EUR][1000 genomes]
rs3097910	0.85[EUR][1000 genomes]
rs3097913	0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs3097915	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3097916	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3097917	0.90[EUR][1000 genomes]
rs3097918	0.90[EUR][1000 genomes]
rs3097920	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3113385	0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs721456	0.85[YRI][hapmap];0.86[EUR][1000 genomes]
rs978534	0.84[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3097919	RWDD1	trans	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124723400-124725800	Enhancers	Fetal Intestine Large	intestine
2	chr4:124723600-124724400	Enhancers	Colon Smooth Muscle	Colon
3	chr4:124723600-124725600	Enhancers	Fetal Heart	heart
4	chr4:124723600-124725800	Enhancers	Fetal Intestine Small	intestine
5	chr4:124723600-124725800	Enhancers	Fetal Muscle Leg	muscle
6	chr4:124723800-124724400	Enhancers	Stomach Smooth Muscle	stomach
7	chr4:124723800-124724600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr4:124723800-124725800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr4:124723800-124726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:124723800-124732400	Weak transcription	Adipose Nuclei	Adipose
11	chr4:124723800-124733000	Weak transcription	Psoas Muscle	Psoas
12	chr4:124724000-124724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:124724000-124725200	Weak transcription	Right Atrium	heart
14	chr4:124724000-124727200	Weak transcription	NHDF-Ad	bronchial
15	chr4:124724000-124733000	Weak transcription	Left Ventricle	heart
16	chr4:124724200-124725200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:124724200-124725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:124724200-124732600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:124724200-124736000	Weak transcription	Aorta	Aorta

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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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