Variant report

Variant	rs34752624
Chromosome Location	chr2:178770405-178770406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:178770360-178770510	GM12870	blood:	n/a	n/a
2	CTCF	chr2:178770311-178771389	A549	lung:	n/a	chr2:178770989-178771007 chr2:178770991-178771012 chr2:178770992-178771005
3	CTCF	chr2:178770360-178770510	GM12873	blood:	n/a	n/a
4	CTCF	chr2:178770300-178770450	HepG2	liver:	n/a	n/a
5	CTCF	chr2:178770280-178770430	HMF	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178746834..178749681-chr2:178770158..178771750,2	K562	blood:

Variant related genes	Relation type
PDE11A	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12987515	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12994400	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13002118	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13002245	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13004037	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13006992	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13010041	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13012088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014074	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13022805	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13026166	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13033904	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17329811	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34171827	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34261053	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34356580	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34595897	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34648335	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34699522	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34956941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35305315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35391362	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35391652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35586165	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35678669	0.94[EUR][1000 genomes]
rs35691613	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35862134	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35987785	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6746482	0.80[EUR][1000 genomes]
rs6756606	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71423505	0.92[EUR][1000 genomes]
rs71423507	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71423508	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71423514	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71423525	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71423542	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71423543	0.80[EUR][1000 genomes]
rs71423544	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7569826	0.83[EUR][1000 genomes]
rs7574975	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7588187	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7588301	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7592278	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7596644	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7605249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178762600-178772600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178765800-178774200	Weak transcription	HMEC	breast
3	chr2:178765800-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:178766600-178772600	Weak transcription	NHEK	skin
5	chr2:178767000-178770600	Weak transcription	Liver	Liver
6	chr2:178767800-178770600	Weak transcription	Stomach Mucosa	stomach
7	chr2:178768000-178770800	Weak transcription	Ovary	ovary
8	chr2:178768000-178773000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:178768200-178774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:178768600-178770800	Weak transcription	Right Atrium	heart
11	chr2:178768600-178773000	Weak transcription	Left Ventricle	heart
12	chr2:178768600-178780000	Weak transcription	Psoas Muscle	Psoas
13	chr2:178770200-178771200	Enhancers	Fetal Heart	heart
14	chr2:178770200-178773800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:178770400-178770600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:178770400-178770600	Enhancers	K562	blood
17	chr2:178770400-178771000	Enhancers	Pancreas	Pancrea
18	chr2:178770400-178771000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:178770400-178771200	Enhancers	Adipose Nuclei	Adipose
20	chr2:178770400-178771200	Active TSS	A549	lung
21	chr2:178770400-178772400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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