Variant report

Variant	rs1447372
Chromosome Location	chr4:30834962-30834963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12650803	1.00[AFR][1000 genomes]
rs1447362	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs17712630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv4285	chr4:30815642-30838784	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1447372	MMP20	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30813800-30835800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:30825200-30835800	Weak transcription	Aorta	Aorta
3	chr4:30830200-30838400	Weak transcription	Fetal Stomach	stomach
4	chr4:30830600-30837800	Weak transcription	NH-A	brain
5	chr4:30830800-30838400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:30833400-30842800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:30834600-30835200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:30834600-30835200	Enhancers	Left Ventricle	heart
9	chr4:30834600-30836800	Weak transcription	Right Ventricle	heart
10	chr4:30834600-30838000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:30834800-30835000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:30834800-30835000	Enhancers	Stomach Smooth Muscle	stomach
13	chr4:30834800-30835400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:30834800-30838600	Enhancers	Fetal Heart	heart

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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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