Variant report

Variant	rs11065478
Chromosome Location	chr12:121637133-121637134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10849853	0.99[ASN][1000 genomes]
rs11065504	0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs12819431	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12823779	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12827821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686343	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs3794205	0.90[JPT][hapmap]
rs3794207	0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap]
rs3850518	0.98[ASN][1000 genomes]

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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11065478	CAMKK2	cis	Temporal Cortex	GTEx
rs11065478	CAMKK2	Cis_1M	lymphoblastoid	RTeQTL
rs11065478	P2RX4	cis	Whole Blood	GTEx
rs11065478	P2RX4	cis	cerebellum	SCAN
rs11065478	P2RX4	cis	parietal	SCAN
rs11065478	P2RX4	cis	multi-tissue	Pritchard
rs11065478	CAMKK2	cis	lymphoblastoid	seeQTL
rs11065478	CAMKK2	cis	Frontal Cortex	GTEx
rs11065478	CAMKK2	cis	multi-tissue	Pritchard
rs11065478	P2RX7	cis	lymphoblastoid	seeQTL

Chromatin state (count:15 , 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	chr12:121634400-121637200	Enhancers	K562	blood
8	chr12:121634800-121637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:121635000-121640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:121635000-121640800	Weak transcription	Placenta	Placenta
11	chr12:121635200-121640600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:121636200-121639800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:121636400-121639600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:121636600-121637200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:121636800-121637200	Enhancers	HUVEC	blood vessel

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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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