Variant report

Variant	rs2686386
Chromosome Location	chr12:121639657-121639658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1063843	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs1653591	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs1653594	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs2686342	0.80[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2686386	KDM2B	cis	cerebellum	SCAN
rs2686386	GPR109B	cis	cerebellum	SCAN
rs2686386	ACADS	cis	parietal	SCAN
rs2686386	MLXIP	cis	cerebellum	SCAN
rs2686386	CAMKK2	cis	cerebellum	SCAN
rs2686386	PRKAB1	cis	cerebellum	SCAN
rs2686386	RILPL1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:121625600-121647200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:121628000-121647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121630400-121640400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:121630400-121640800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:121630400-121647200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:121635000-121640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:121635000-121640800	Weak transcription	Placenta	Placenta
9	chr12:121635200-121640600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:121636200-121639800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:121637200-121639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:121637200-121642800	Weak transcription	HUVEC	blood vessel
13	chr12:121639600-121640400	Enhancers	K562	blood
14	chr12:121639600-121641600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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