Variant report

Variant	rs12932028
Chromosome Location	chr16:82980764-82980765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12920406	1.00[ASN][1000 genomes]
rs16958809	1.00[ASN][1000 genomes]
rs16958912	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs35425717	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35862345	1.00[ASN][1000 genomes]
rs55972152	1.00[ASN][1000 genomes]
rs57660032	1.00[ASN][1000 genomes]
rs67063178	1.00[ASN][1000 genomes]
rs67289022	1.00[ASN][1000 genomes]
rs72790104	1.00[AFR][1000 genomes]
rs72790112	1.00[AFR][1000 genomes]
rs72790130	1.00[AFR][1000 genomes]
rs72790145	1.00[AFR][1000 genomes]
rs72790162	1.00[ASN][1000 genomes]
rs72806002	1.00[AFR][1000 genomes]
rs72807826	1.00[ASN][1000 genomes]
rs72807830	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv907029	chr16:82951179-83044665	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv907030	chr16:82959437-83044665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1055454	chr16:82964787-82984576	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82934000-83003400	Weak transcription	NHEK	skin
2	chr16:82934600-82989600	Weak transcription	HSMMtube	muscle
3	chr16:82970800-83021000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82971400-83009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:82972800-82994600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:82976600-83013800	Weak transcription	Aorta	Aorta
7	chr16:82978200-82985200	Weak transcription	Brain Germinal Matrix	brain
8	chr16:82978200-82989600	Weak transcription	Right Atrium	heart
9	chr16:82979200-83004600	Weak transcription	Left Ventricle	heart
10	chr16:82979400-82984600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:82980400-82982800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:82980600-82980800	Strong transcription	HSMM	muscle
13	chr16:82980600-82981400	Weak transcription	HUVEC	blood vessel

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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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