Variant report

Variant	rs4275021
Chromosome Location	chr6:76029760-76029761
allele	A/G
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	CEBPB	chr6:76029741-76029998	A549	lung:	n/a	n/a
2	CEBPB	chr6:76029730-76030056	IMR90	lung:	n/a	n/a
3	CEBPB	chr6:76029716-76030060	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
HMGB1P39	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1018471	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10806035	0.91[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10943241	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs171263	0.83[EUR][1000 genomes]
rs2250989	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs240378	0.82[EUR][1000 genomes]
rs240379	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs240380	0.83[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2748252	0.91[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2808201	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs2808203	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2808204	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842446	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2842458	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842459	0.88[CEU][hapmap];0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842462	0.82[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842463	0.82[CEU][hapmap];0.80[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3935857	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4131550	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4273651	0.87[ASN][1000 genomes]
rs4295446	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4361582	0.87[ASN][1000 genomes]
rs4374801	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4412169	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4535511	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4541712	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4568415	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4588651	0.84[ASN][1000 genomes]
rs4708179	0.91[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4708181	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6902022	0.83[ASN][1000 genomes]
rs6903526	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6904580	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6913979	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6929270	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937768	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7451911	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7740648	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7743227	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7766441	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7771904	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7772989	0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9341514	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9341515	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9341516	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9343283	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352202	0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9352203	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9352207	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9359122	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9443168	0.92[ASN][1000 genomes]
rs9443169	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9443170	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9443171	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs9447475	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9689477	0.87[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
9	nsv981158	chr6:76027339-76030595	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76016200-76044400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:76024800-76042200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:76024800-76047200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:76027400-76036800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:76027600-76033200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:76027600-76036400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:76027800-76036600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:76027800-76044000	Weak transcription	Right Ventricle	heart
9	chr6:76028000-76033200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:76028200-76043800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:76028200-76044000	Weak transcription	Aorta	Aorta
12	chr6:76029600-76029800	Enhancers	Left Ventricle	heart

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