Variant report

Variant	rs9924636
Chromosome Location	chr16:82946248-82946249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58101558	1.00[AMR][1000 genomes]
rs58804740	1.00[AMR][1000 genomes]
rs60691277	1.00[AMR][1000 genomes]
rs60793770	1.00[AMR][1000 genomes]
rs61620508	1.00[AMR][1000 genomes]
rs7206755	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs7206771	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030303	1.00[AMR][1000 genomes]
rs74030324	1.00[AMR][1000 genomes]
rs74032603	1.00[AMR][1000 genomes]
rs74032604	1.00[AMR][1000 genomes]
rs74032610	1.00[AMR][1000 genomes]
rs74033621	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9924636	MNDA	trans	lymphoblastoid	seeQTL

Chromatin state (count:15 , 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	chr16:82933800-82947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr16:82934000-82947400	Weak transcription	Psoas Muscle	Psoas
5	chr16:82934000-83003400	Weak transcription	NHEK	skin
6	chr16:82934200-82952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:82934400-82947200	Weak transcription	Left Ventricle	heart
8	chr16:82934400-82949200	Weak transcription	Aorta	Aorta
9	chr16:82934400-82967000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:82934400-82967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:82934600-82989600	Weak transcription	HSMMtube	muscle
12	chr16:82938800-82947200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:82940400-82948200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:82944400-82948200	Weak transcription	Right Ventricle	heart
15	chr16:82945800-82947200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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