Variant report

Variant	rs4666754
Chromosome Location	chr2:189008267-189008268
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10460382	0.87[EUR][1000 genomes]
rs10931328	0.81[EUR][1000 genomes]
rs10931329	0.83[EUR][1000 genomes]
rs10931330	0.81[EUR][1000 genomes]
rs10931331	0.81[EUR][1000 genomes]
rs10931332	0.89[EUR][1000 genomes]
rs11682297	0.81[EUR][1000 genomes]
rs11687382	0.81[EUR][1000 genomes]
rs12478374	0.87[EUR][1000 genomes]
rs12615631	0.87[EUR][1000 genomes]
rs13002260	0.93[AFR][1000 genomes]
rs13021054	0.89[EUR][1000 genomes]
rs13021984	0.94[EUR][1000 genomes]
rs13024023	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1304011	0.83[EUR][1000 genomes]
rs1371527	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1371528	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1371529	0.96[EUR][1000 genomes]
rs1439903	0.81[EUR][1000 genomes]
rs1439904	0.83[EUR][1000 genomes]
rs1439909	0.96[EUR][1000 genomes]
rs16829839	0.83[EUR][1000 genomes]
rs2028374	0.86[EUR][1000 genomes]
rs2043946	0.92[EUR][1000 genomes]
rs2119090	0.92[EUR][1000 genomes]
rs2350563	0.82[EUR][1000 genomes]
rs35311707	0.89[EUR][1000 genomes]
rs35823311	0.92[EUR][1000 genomes]
rs4312445	0.83[AFR][1000 genomes]
rs4427987	0.95[EUR][1000 genomes]
rs4666755	0.83[AFR][1000 genomes]
rs4667212	0.87[EUR][1000 genomes]
rs55755436	0.89[EUR][1000 genomes]
rs58176375	0.81[EUR][1000 genomes]
rs62179560	0.81[EUR][1000 genomes]
rs62180847	0.89[EUR][1000 genomes]
rs6434262	0.89[EUR][1000 genomes]
rs6707652	0.94[EUR][1000 genomes]
rs6712945	0.83[EUR][1000 genomes]
rs6723998	0.94[EUR][1000 genomes]
rs6725429	0.83[AFR][1000 genomes]
rs6742274	0.90[AFR][1000 genomes]
rs7567661	0.93[AFR][1000 genomes]
rs7598397	0.90[AFR][1000 genomes]
rs920408	0.84[EUR][1000 genomes]
rs971268	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs997045	0.81[EUR][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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875602	chr2:188923773-189016215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv584044	chr2:188928433-189016215	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188979400-189013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:189005400-189010600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:189006600-189008400	Enhancers	NHEK	skin
5	chr2:189006600-189008800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:189006800-189008400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:189007200-189008400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:189007200-189008800	Enhancers	NHDF-Ad	bronchial
9	chr2:189007200-189010800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:189007400-189008400	Enhancers	A549	lung
11	chr2:189007800-189009200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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