Variant report

Variant	rs6036843
Chromosome Location	chr20:24567367-24567368
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4087431	0.89[EUR][1000 genomes]
rs4815280	0.84[CEU][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs4815283	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6036850	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6049798	0.96[CEU][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6049811	0.84[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs7271447	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6036843	MBIP	trans	cerebellum	SCAN
rs6036843	MFSD5	trans	cerebellum	SCAN
rs6036843	PLK1S1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24538800-24570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:24562400-24567400	Weak transcription	Fetal Brain Female	brain
3	chr20:24562600-24570000	Weak transcription	Spleen	Spleen
4	chr20:24565600-24567400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr20:24565600-24567800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr20:24565600-24567800	Weak transcription	Brain Substantia Nigra	brain
7	chr20:24565600-24567800	Weak transcription	Fetal Lung	lung
8	chr20:24565600-24568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:24565600-24568200	Weak transcription	Brain Anterior Caudate	brain
10	chr20:24565800-24567400	Weak transcription	Brain Angular Gyrus	brain
11	chr20:24566200-24567400	Weak transcription	Brain Hippocampus Middle	brain
12	chr20:24566400-24569200	Enhancers	Fetal Brain Male	brain
13	chr20:24566800-24567400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:24567000-24569400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr20:24567200-24568400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr20:24567200-24569400	Enhancers	Brain Germinal Matrix	brain

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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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