Variant report

Variant	rs9922544
Chromosome Location	chr16:82948473-82948474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12102311	1.00[AMR][1000 genomes]
rs12102366	1.00[AMR][1000 genomes]
rs12102653	1.00[AMR][1000 genomes]
rs12103152	1.00[AMR][1000 genomes]
rs12103389	1.00[AMR][1000 genomes]
rs13330168	1.00[AMR][1000 genomes]
rs13331344	1.00[AMR][1000 genomes]
rs16958941	1.00[AMR][1000 genomes]
rs28432212	1.00[AMR][1000 genomes]
rs28550766	1.00[AMR][1000 genomes]
rs28578186	1.00[AMR][1000 genomes]
rs28653062	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28756196	1.00[AMR][1000 genomes]
rs57610624	1.00[EUR][1000 genomes]
rs57774631	0.85[AFR][1000 genomes]
rs7186187	1.00[EUR][1000 genomes]
rs7191394	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7200238	1.00[EUR][1000 genomes]
rs7499514	1.00[EUR][1000 genomes]
rs8053876	1.00[AMR][1000 genomes]
rs9924337	1.00[AMR][1000 genomes]
rs9926637	1.00[AMR][1000 genomes]
rs9929103	1.00[AMR][1000 genomes]
rs9929449	1.00[AMR][1000 genomes]
rs9930035	1.00[AMR][1000 genomes]
rs9932185	1.00[AMR][1000 genomes]
rs9932493	1.00[AMR][1000 genomes]
rs9933027	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933230	1.00[AMR][1000 genomes]
rs9933340	1.00[AMR][1000 genomes]
rs9935473	1.00[EUR][1000 genomes]
rs9936026	1.00[AMR][1000 genomes]
rs9937448	1.00[AMR][1000 genomes]
rs9937544	1.00[AMR][1000 genomes]
rs9944318	1.00[AMR][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	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv573382	chr16:82905546-82950502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv907028	chr16:82940611-82974628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9922544	CD3D	trans	lymphoblastoid	seeQTL
rs9922544	HBD	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:82926800-82961200	Weak transcription	HSMM	muscle
3	chr16:82934000-83003400	Weak transcription	NHEK	skin
4	chr16:82934200-82952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82934400-82949200	Weak transcription	Aorta	Aorta
6	chr16:82934400-82967000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82934400-82967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:82934600-82989600	Weak transcription	HSMMtube	muscle
9	chr16:82947000-82949400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr16:82947400-82948800	Enhancers	Psoas Muscle	Psoas
11	chr16:82948200-82949400	Enhancers	Right Ventricle	heart
12	chr16:82948200-82949400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr16:82948400-82958800	Weak transcription	Left Ventricle	heart

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