Variant report

Variant	rs12881040
Chromosome Location	chr14:70513803-70513804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12887763	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1459706	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1585376	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1957450	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34669253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090693	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55661016	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59560095	1.00[ASN][1000 genomes]
rs72729824	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72729832	1.00[ASN][1000 genomes]
rs72729833	1.00[ASN][1000 genomes]
rs72729835	0.90[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12881040	MED6	cis	cerebellum	SCAN
rs12881040	EIF2S1	cis	cerebellum	SCAN
rs12881040	ATP6V1D	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70509200-70514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:70510800-70515400	Weak transcription	Fetal Brain Female	brain
3	chr14:70511200-70518200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:70511600-70519000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:70512600-70514800	Flanking Active TSS	HepG2	liver
6	chr14:70512600-70516600	Weak transcription	HSMMtube	muscle
7	chr14:70512800-70514600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
9	chr14:70513000-70514400	Enhancers	A549	lung
10	chr14:70513200-70514200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:70513200-70514600	Weak transcription	Liver	Liver
12	chr14:70513200-70515400	Weak transcription	Pancreas	Pancrea
13	chr14:70513200-70519200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:70513200-70520000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:70513400-70514400	Weak transcription	HMEC	breast
16	chr14:70513800-70514600	Strong transcription	Primary hematopoietic stem cells	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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