Variant report

Variant	rs1819196
Chromosome Location	chr9:14393603-14393604
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10481502	1.00[EUR][1000 genomes]
rs10961488	1.00[EUR][1000 genomes]
rs12338474	1.00[EUR][1000 genomes]
rs12345851	1.00[EUR][1000 genomes]
rs16931636	1.00[EUR][1000 genomes]
rs16931709	1.00[EUR][1000 genomes]
rs28821534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4740568	1.00[EUR][1000 genomes]
rs521145	1.00[EUR][1000 genomes]
rs57102067	1.00[EUR][1000 genomes]
rs59538849	1.00[EUR][1000 genomes]
rs7036373	1.00[EUR][1000 genomes]
rs7036460	1.00[EUR][1000 genomes]
rs73419662	1.00[AMR][1000 genomes]
rs73419663	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73641908	1.00[EUR][1000 genomes]
rs73641924	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers 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	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892600	chr9:14370172-14469146	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv892601	chr9:14380528-14405555	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14384200-14395400	Weak transcription	Left Ventricle	heart
2	chr9:14385400-14395600	Weak transcription	Psoas Muscle	Psoas
3	chr9:14386400-14418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:14389200-14395600	Weak transcription	Fetal Heart	heart
5	chr9:14390600-14395000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:14392000-14400400	Weak transcription	Aorta	Aorta
7	chr9:14392400-14395600	Weak transcription	Ovary	ovary
8	chr9:14393000-14393800	Enhancers	K562	blood
9	chr9:14393200-14395400	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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