Variant report

Variant	rs608394
Chromosome Location	chr12:121194053-121194054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121161679..121164638-chr12:121193767..121195391,2	K562	blood:

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10849791	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065264	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579868	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13746	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1467283	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1718180	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2015462	0.95[ASN][1000 genomes]
rs2047568	0.85[ASN][1000 genomes]
rs2393717	0.94[ASN][1000 genomes]
rs2893876	0.85[ASN][1000 genomes]
rs3213566	0.94[ASN][1000 genomes]
rs3213567	0.94[ASN][1000 genomes]
rs3213570	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213572	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3842985	0.83[ASN][1000 genomes]
rs3861797	0.83[ASN][1000 genomes]
rs3883901	0.83[ASN][1000 genomes]
rs3901854	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs471688	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4767937	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs487943	0.80[EUR][1000 genomes]
rs494632	0.87[EUR][1000 genomes]
rs508595	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520753	0.80[EUR][1000 genomes]
rs525425	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs531782	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs533264	0.81[EUR][1000 genomes]
rs534415	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs548452	0.80[EUR][1000 genomes]
rs572016	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs577961	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs580240	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590625	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs609700	0.81[EUR][1000 genomes]
rs610694	0.81[EUR][1000 genomes]
rs618482	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624216	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs625228	0.80[ASN][1000 genomes]
rs647881	0.80[EUR][1000 genomes]
rs661647	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs665585	0.80[EUR][1000 genomes]
rs668622	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7137504	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7305849	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs909053	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9431	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	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	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs608394	RPLP0	cis	Skin Sun Exposed Lower leg	GTEx
rs608394	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
5	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
6	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
7	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
8	chr12:121189600-121197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:121190400-121197800	Weak transcription	Right Atrium	heart
10	chr12:121192800-121194400	Weak transcription	Fetal Intestine Small	intestine
11	chr12:121193000-121195600	Weak transcription	Fetal Stomach	stomach
12	chr12:121193000-121198400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:121193400-121194400	Weak transcription	Placenta	Placenta
14	chr12:121193400-121195600	Weak transcription	Brain Germinal Matrix	brain
15	chr12:121193400-121197400	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:121193600-121197000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:121193800-121197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:121193800-121198200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:121194000-121196800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:121194000-121197000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:121194000-121197600	Weak transcription	GM12878-XiMat	blood
22	chr12:121194000-121200800	Weak transcription	HepG2	liver

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