Variant report

Variant	rs6842600
Chromosome Location	chr4:122292481-122292482
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	E2F4	chr4:122291998-122292495	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122265924..122266538-chr4:122292160..122292685,2	MCF-7	breast:
2	chr4:122198899..122199696-chr4:122292166..122292719,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213480	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11098617	0.84[ASN][1000 genomes]
rs11729700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11732033	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13120639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13140392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13146881	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1398908	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs17371707	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs17371804	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs17372496	0.84[JPT][hapmap]
rs17437630	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs17438865	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17438900	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs35469175	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35623795	0.93[CEU][hapmap]
rs35964783	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs691661	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs691712	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7678003	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7688947	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964305	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]

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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv508308	chr4:122278897-122312719	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1003477	chr4:122281973-122297539	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1001654	chr4:122282456-122297539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1012376	chr4:122282456-122299460	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122282200-122294000	Weak transcription	HMEC	breast
2	chr4:122282200-122295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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