Variant report

Variant	rs4398428
Chromosome Location	chr3:115728651-115728652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:115718424..115720399-chr3:115727607..115730544,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11918028	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12485818	0.81[CEU][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.80[EUR][1000 genomes]
rs12495426	0.81[CEU][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.80[EUR][1000 genomes]
rs13065579	0.81[CEU][hapmap]
rs13086615	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1920382	0.84[CEU][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[EUR][1000 genomes]
rs1920383	0.84[CEU][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs1920384	0.80[CEU][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.84[EUR][1000 genomes]
rs1920385	0.82[EUR][1000 genomes]
rs1920388	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2141626	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2141627	0.81[EUR][1000 genomes]
rs2141629	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs35764849	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131452	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4131453	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4240163	0.82[ASN][1000 genomes]
rs4240164	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs4240165	0.83[ASN][1000 genomes]
rs4240166	0.80[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4286426	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.86[LWK][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4315682	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4378955	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4399891	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4426677	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs4518124	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4599302	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4611819	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4831218	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4831219	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4831220	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4831221	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4831222	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4831223	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6438296	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6776244	0.93[CHD][hapmap]
rs6777196	0.84[ASN][1000 genomes]
rs6787687	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6787872	0.84[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6789600	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6790290	0.84[ASN][1000 genomes]
rs6795318	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6804278	0.85[ASN][1000 genomes]
rs6807809	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7610371	0.81[CEU][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.80[EUR][1000 genomes]
rs7625191	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7632252	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9289033	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9289034	0.88[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9289039	0.85[EUR][1000 genomes]
rs9289040	0.81[CEU][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.81[EUR][1000 genomes]
rs9813153	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9815418	0.81[ASN][1000 genomes]
rs9840787	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap]
rs9845521	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs9848298	0.81[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9850406	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9863087	0.84[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9869887	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9872913	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs9873260	0.81[ASN][1000 genomes]
rs9878286	0.84[CEU][hapmap];0.86[CHD][hapmap]

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	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2760762	chr3:115476222-115807650	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv829685	chr3:115643521-115812913	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115719600-115742600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:115719800-115732000	Weak transcription	Hela-S3	cervix
3	chr3:115722800-115739400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:115724800-115732400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:115725200-115730600	Weak transcription	K562	blood
6	chr3:115725200-115735800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:115726200-115738200	Weak transcription	NHDF-Ad	bronchial

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