Variant report

Variant	rs4783272
Chromosome Location	chr16:82825984-82825985
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82800736..82802731-chr16:82823544..82826539,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12443581	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12444346	0.93[EUR][1000 genomes]
rs12449008	0.92[EUR][1000 genomes]
rs12924379	0.81[ASN][1000 genomes]
rs12934135	0.85[ASN][1000 genomes]
rs16958471	0.81[EUR][1000 genomes]
rs16958587	0.93[EUR][1000 genomes]
rs16958616	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4782730	0.90[ASN][1000 genomes]
rs6565068	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7185386	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7186123	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7195472	0.93[EUR][1000 genomes]
rs7200332	0.92[EUR][1000 genomes]
rs726122	0.92[EUR][1000 genomes]
rs8054286	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8054922	0.95[EUR][1000 genomes]
rs8061163	0.95[EUR][1000 genomes]
rs9989405	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1066132	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv543001	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	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
10	nsv1063412	chr16:82806653-82826507	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1064630	chr16:82821672-82831914	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:82815800-82834600	Weak transcription	HUVEC	blood vessel
3	chr16:82817200-82838800	Weak transcription	Psoas Muscle	Psoas
4	chr16:82817800-82828200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:82818000-82828800	Weak transcription	Right Ventricle	heart
6	chr16:82818400-82839600	Weak transcription	Aorta	Aorta
7	chr16:82819600-82829200	Weak transcription	Fetal Muscle Leg	muscle
8	chr16:82819600-82833800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:82820200-82838600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:82820400-82826600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:82821000-82826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:82822600-82833800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:82822800-82839000	Weak transcription	Left Ventricle	heart
14	chr16:82823200-82832200	Weak transcription	HMEC	breast
15	chr16:82823600-82828400	Weak transcription	HSMMtube	muscle
16	chr16:82823600-82858000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:82823800-82828600	Weak transcription	HSMM	muscle
18	chr16:82825000-82826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:82825200-82826000	Strong transcription	NHEK	skin
20	chr16:82825800-82833000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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