Variant report

Variant	rs10876921
Chromosome Location	chr12:57176186-57176187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10876920	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876930	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876931	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11171985	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2371559	0.94[ASN][1000 genomes]
rs2371561	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136081	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7957053	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv826382	chr12:57151464-57208607	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10876921	HSD17B6	cis	parietal	SCAN
rs10876921	ACVRL1	cis	cerebellum	SCAN
rs10876921	MUCL1	cis	parietal	SCAN
rs10876921	GPR84	cis	cerebellum	SCAN
rs10876921	STAT6	cis	parietal	SCAN
rs10876921	PRIM1	cis	parietal	SCAN
rs10876921	HSD17B6	cis	cerebellum	SCAN
rs10876921	PRIM1	cis	lymphoblastoid	seeQTL
rs10876921	BIN2	cis	cerebellum	SCAN
rs10876921	PRIM1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57156400-57179400	Weak transcription	Spleen	Spleen
2	chr12:57158600-57179200	Weak transcription	HSMMtube	muscle
3	chr12:57160800-57179400	Weak transcription	Lung	lung
4	chr12:57164800-57179200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:57170000-57182800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:57173400-57176600	Genic enhancers	Liver	Liver
7	chr12:57174800-57176400	Enhancers	HepG2	liver
8	chr12:57175800-57176200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:57175800-57176200	Enhancers	K562	blood

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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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