Variant report

Variant	rs4498305
Chromosome Location	chr6:75444103-75444104
allele	A/C
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	STAT3	chr6:75443953-75444268	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr6:75443898-75444130	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000272243	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2152712	0.83[AMR][1000 genomes]
rs2152713	0.83[AMR][1000 genomes]
rs2243712	0.83[AMR][1000 genomes]
rs2485451	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2485453	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2502464	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502533	0.83[AMR][1000 genomes]
rs2502537	0.83[AMR][1000 genomes]
rs4280925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4283850	0.85[CEU][hapmap]
rs4516911	0.85[CEU][hapmap]
rs4708162	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62437815	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62437859	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62438799	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930821	0.85[CEU][hapmap]
rs7746816	1.00[ASN][1000 genomes]
rs9360837	0.83[AMR][1000 genomes]
rs9360843	0.85[CEU][hapmap]
rs9360844	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520746	chr6:75211546-75691814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917283	chr6:75234428-75641440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv830694	chr6:75245483-75446282	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv830695	chr6:75409656-75583115	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv603759	chr6:75432861-75461657	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv886169	chr6:75432861-75610722	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75440400-75446000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:75440800-75445600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:75440800-75445600	Enhancers	NHDF-Ad	bronchial
4	chr6:75442000-75444800	Weak transcription	HMEC	breast
5	chr6:75442200-75445000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:75442600-75444600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:75443200-75444400	Enhancers	Ovary	ovary
8	chr6:75443400-75444200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:75443400-75445800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:75443600-75445600	Enhancers	Colon Smooth Muscle	Colon
11	chr6:75443600-75445600	Enhancers	Osteobl	bone
12	chr6:75443600-75446000	Enhancers	NHLF	lung
13	chr6:75443800-75444400	Enhancers	Adipose Nuclei	Adipose
14	chr6:75443800-75444400	Enhancers	Rectal Smooth Muscle	rectum
15	chr6:75443800-75444400	Enhancers	HSMMtube	muscle
16	chr6:75444000-75444200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:75444000-75444200	Enhancers	NH-A	brain
18	chr6:75444000-75444400	Enhancers	HSMM	muscle

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