Variant report

Variant	rs12739418
Chromosome Location	chr1:45850319-45850320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12139364	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12739418	CCDC163P	cis	Skin Sun Exposed Lower leg	GTEx
rs12739418	MUTYH	cis	multi-tissue	Pritchard
rs12739418	MUTYH	Cis_1M	lymphoblastoid	RTeQTL
rs12739418	CCDC163P	cis	Muscle Skeletal	GTEx
rs12739418	CCDC163P	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45826200-45867200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:45827000-45859000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:45839600-45850600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:45839800-45851800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:45840000-45858600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:45840400-45850400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:45840400-45850400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:45841200-45857400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:45841400-45889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:45842200-45859000	Weak transcription	Right Atrium	heart
11	chr1:45842400-45852400	Weak transcription	Aorta	Aorta
12	chr1:45844200-45858400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:45847400-45853200	Weak transcription	HepG2	liver
14	chr1:45848000-45854000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:45849800-45851800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:45850200-45857200	Weak transcription	Fetal Lung	lung

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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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