Variant report

Variant	rs2255355
Chromosome Location	chr4:110891543-110891544
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11568895	0.83[EUR][1000 genomes]
rs11568943	0.87[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11568978	0.87[CEU][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11569126	0.86[TSI][hapmap]
rs11932661	0.83[EUR][1000 genomes]
rs2237054	0.84[AMR][1000 genomes]
rs2250724	0.93[TSI][hapmap]
rs2298981	0.81[EUR][1000 genomes]
rs2298982	0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2298986	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs2299001	0.93[TSI][hapmap]
rs2347138	0.83[EUR][1000 genomes]
rs2881560	0.83[EUR][1000 genomes]
rs35368137	0.83[EUR][1000 genomes]
rs35860692	0.83[EUR][1000 genomes]
rs3733625	0.86[TSI][hapmap]
rs3733626	0.81[MEX][hapmap]
rs3796947	1.00[TSI][hapmap]
rs4141078	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6823529	0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs6825106	0.84[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes]
rs7661766	0.83[EUR][1000 genomes]
rs7661968	0.86[TSI][hapmap]
rs7670908	0.93[TSI][hapmap]
rs7699332	0.81[EUR][1000 genomes]
rs971695	0.82[MEX][hapmap]
rs9991367	0.93[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2255355	ENPEP	cis	brain	seeQTL
rs2255355	GAS7	trans	brain	seeQTL
rs2255355	C7orf58	trans	brain	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
3	chr4:110884200-110893600	Weak transcription	Fetal Heart	heart
4	chr4:110885800-110897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:110885800-110909800	Weak transcription	Left Ventricle	heart
6	chr4:110888200-110893800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:110889000-110891600	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:110889000-110891800	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:110889000-110894000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:110889400-110891800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:110890200-110894200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:110890200-110894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:110890400-110893600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:110890400-110894200	Weak transcription	NHEK	skin
15	chr4:110890400-110900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:110890600-110893800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:110890800-110891600	Enhancers	Fetal Kidney	kidney
18	chr4:110890800-110891800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr4:110890800-110891800	Enhancers	HepG2	liver
20	chr4:110891000-110891600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr4:110891000-110891600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:110891000-110891600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:110891000-110891600	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr4:110891000-110891600	Enhancers	Spleen	Spleen
25	chr4:110891000-110891600	Enhancers	Dnd41	blood
26	chr4:110891000-110891600	Flanking Active TSS	HUVEC	blood vessel
27	chr4:110891000-110891600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr4:110891000-110891800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:110891200-110891600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr4:110891200-110891600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:110891200-110891600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:110891200-110891600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:110891200-110891600	Bivalent Enhancer	GM12878-XiMat	blood
34	chr4:110891200-110891800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:110891200-110893200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:110891200-110900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:110891400-110891600	Enhancers	Fetal Intestine Small	intestine
38	chr4:110891400-110892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:110891400-110893400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:110891400-110893800	Weak transcription	Fetal Muscle Leg	muscle

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