Variant report

Variant	rs1801262
Chromosome Location	chr2:182543455-182543456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:182542431-182543532	ECC-1	luminal epithelium:	n/a	n/a
2	REST	chr2:182542253-182543572	A549	lung:	n/a	n/a
3	REST	chr2:182542290-182543634	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr2:182542350-182543592	HepG2	liver:	n/a	n/a
5	REST	chr2:182542376-182543562	HCT-116	colon:	n/a	n/a
6	SUZ12	chr2:182542453-182544694	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr2:182543393-182543558	HepG2	liver:	n/a	n/a
8	REST	chr2:182542184-182543597	PANC-1	pancreas:	n/a	n/a
9	CTBP2	chr2:182542573-182543638	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr2:182542486-182543612	PANC-1	pancreas:	n/a	n/a
11	REST	chr2:182542213-182544252	HL-60	blood:	n/a	n/a
12	REST	chr2:182542331-182543480	HL-60	blood:	n/a	n/a
13	ZNF263	chr2:182542588-182543709	HEK293-T-REx	kidney:	n/a	chr2:182543465-182543486
14	REST	chr2:182542297-182543478	PANC-1	pancreas:	n/a	n/a
15	REST	chr2:182542499-182543520	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr2:182542309-182543623	PFSK-1	brain:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182542601..182545361-chr2:182546496..182548838,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234595	TF binding region
ENSG00000234595	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10201723	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs13032839	0.82[EUR][1000 genomes]
rs1372120	0.83[EUR][1000 genomes]
rs17198745	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270924	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270931	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967351	0.92[EUR][1000 genomes]
rs2368223	0.83[EUR][1000 genomes]
rs2583016	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3910660	0.82[EUR][1000 genomes]
rs3910663	0.83[EUR][1000 genomes]
rs3910664	0.89[CEU][hapmap];0.87[GIH][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4666571	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4666791	0.92[CEU][hapmap];0.88[CHB][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4666793	0.91[EUR][1000 genomes]
rs62190012	0.91[EUR][1000 genomes]
rs7596272	0.90[EUR][1000 genomes]
rs7602326	0.82[EUR][1000 genomes]
rs935087	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1801262	PDE11A	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182542200-182543800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:182542400-182543600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:182542400-182543600	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
4	chr2:182542400-182543600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:182542400-182545000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:182542400-182545400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr2:182542400-182546200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr2:182542600-182543600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr2:182542600-182543600	Bivalent Enhancer	Fetal Thymus	thymus
10	chr2:182542600-182543800	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr2:182542600-182545200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr2:182542800-182543600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr2:182542800-182543600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr2:182542800-182543600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:182542800-182543600	ZNF genes & repeats	Spleen	Spleen
16	chr2:182542800-182543800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr2:182542800-182544200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr2:182543000-182543600	Enhancers	Pancreas	Pancrea
19	chr2:182543000-182543800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr2:182543000-182544000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
21	chr2:182543000-182545000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr2:182543000-182545600	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr2:182543200-182543600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:182543200-182543600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr2:182543200-182544000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:182543200-182545000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:182543400-182543600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:182543400-182543600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:182543400-182543600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr2:182543400-182543600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:182543400-182543600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
32	chr2:182543400-182543600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
33	chr2:182543400-182543600	Bivalent Enhancer	Esophagus	oesophagus
34	chr2:182543400-182543800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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