Variant report

Variant	rs4925043
Chromosome Location	chr17:19612496-19612497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs118943	1.00[ASW][hapmap]
rs150122	1.00[ASW][hapmap]
rs157386	1.00[LWK][hapmap]
rs157396	1.00[ASW][hapmap]
rs157402	1.00[ASW][hapmap]
rs172186	1.00[ASW][hapmap]
rs188138	1.00[ASW][hapmap]
rs2010744	1.00[ASW][hapmap]
rs205093	1.00[ASW][hapmap]
rs205107	1.00[ASW][hapmap]
rs205110	1.00[ASW][hapmap]
rs281332	1.00[ASW][hapmap]
rs281346	1.00[ASW][hapmap]
rs281351	1.00[ASW][hapmap]
rs281357	1.00[LWK][hapmap]
rs6587203	1.00[ASW][hapmap]
rs917519	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4925043	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL
rs4925043	ALDH3A2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19606200-19613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:19607200-19619800	Weak transcription	Spleen	Spleen
3	chr17:19607600-19627400	Weak transcription	Right Atrium	heart
4	chr17:19607800-19612600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr17:19608200-19617000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:19608800-19619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:19609400-19612600	Enhancers	Esophagus	oesophagus
8	chr17:19610200-19616000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:19610400-19616000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:19610600-19617800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:19610600-19619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:19610800-19615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:19610800-19619400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:19611000-19618600	Weak transcription	Brain Anterior Caudate	brain
15	chr17:19611000-19619400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:19611200-19619800	Weak transcription	Fetal Intestine Large	intestine
17	chr17:19611400-19615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:19612000-19613600	Enhancers	HepG2	liver
19	chr17:19612400-19612600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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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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