Variant report

Variant	rs12755754
Chromosome Location	chr1:192681078-192681079
allele	A/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	USF1	chr1:192680761-192681106	H1-hESC	embryonic stem cell:	n/a	chr1:192680930-192680941

Variant related genes	Relation type
MIR4426	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs12724227	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726547	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727381	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727538	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729923	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12730514	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12731540	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733584	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734103	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12743947	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744645	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744940	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747575	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748165	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749077	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12749254	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750259	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751300	0.87[AFR][1000 genomes]
rs12751942	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752676	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754700	0.90[AFR][1000 genomes]
rs12754879	0.90[AFR][1000 genomes]
rs16834649	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16834654	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834657	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834665	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16834668	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834673	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16834675	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834677	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834679	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834688	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834690	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834693	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834698	0.82[AFR][1000 genomes]
rs17585105	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17585265	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933703	0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1933704	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146609	0.93[ASW][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs33945715	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34097781	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100239	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34113351	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34192146	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34208957	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34347367	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34348864	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349890	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34373724	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494529	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34495773	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34539703	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34725057	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34823827	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34889140	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34960843	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35103963	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35164338	0.85[EUR][1000 genomes]
rs35234624	0.92[ASW][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35431149	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35491260	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511097	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35555343	0.82[AFR][1000 genomes]
rs35556099	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35557412	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35679411	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35766898	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35918607	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs36034041	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36057899	0.89[EUR][1000 genomes]
rs36082277	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36087525	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36090855	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36125019	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4995860	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4995861	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6656146	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673110	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681333	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691305	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639163	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs71639164	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs71639165	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639166	0.84[AFR][1000 genomes]
rs71639168	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639169	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639171	0.90[AFR][1000 genomes]
rs71639172	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639173	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639174	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130449	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130457	0.80[AFR][1000 genomes]
rs9287125	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv3321003	chr1:192674884-192683739	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3321001	chr1:192674886-192683763	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3321002	chr1:192674954-192683702	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3321004	chr1:192674954-192683702	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv18975	chr1:192675218-192683546	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv947459	chr1:192676062-192682340	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192677000-192682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:192677400-192683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:192677800-192682800	Weak transcription	HMEC	breast
4	chr1:192679000-192683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:192679600-192682800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:192680000-192682800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:192680200-192682800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:192681000-192681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:192681000-192683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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