Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:182647541..182657734-chr2:182753295..182760748,23	MCF-7	breast:
2	chr2:182655124..182657474-chr2:182657876..182660662,2	K562	blood:
3	chr2:182653727..182657745-chr2:182674412..182677081,4	MCF-7	breast:
4	chr2:182646086..182659083-chr2:182754079..182762654,36	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10178791	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884484	1.00[AMR][1000 genomes]
rs11884530	0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898883	0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904385	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11904481	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385387	0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391116	0.92[AFR][1000 genomes]
rs13404097	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs13412336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415704	1.00[AMR][1000 genomes]
rs13431885	0.81[YRI][hapmap];1.00[AFR][1000 genomes]
rs28730957	1.00[AMR][1000 genomes]
rs56043868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59024368	1.00[AMR][1000 genomes]
rs59405729	1.00[AMR][1000 genomes]
rs73030974	1.00[AMR][1000 genomes]
rs73030984	1.00[AMR][1000 genomes]
rs73031000	0.93[AFR][1000 genomes]
rs9288070	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288071	1.00[AMR][1000 genomes]
rs9288072	1.00[AMR][1000 genomes]
rs9288075	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9630973	1.00[AMR][1000 genomes]
rs9630988	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr2:182656400-182658600	Weak transcription	Thymus	Thymus
2	chr2:182656800-182657600	Enhancers	Dnd41	blood
3	chr2:182657200-182657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:182657200-182658200	Weak transcription	HMEC	breast
5	chr2:182657200-182661400	Weak transcription	Osteobl	bone
6	chr2:182657200-182669800	Weak transcription	NHDF-Ad	bronchial
7	chr2:182657400-182658800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search: