Variant report

Variant	rs680700
Chromosome Location	chr12:121551583-121551584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121540942..121542575-chr12:121550109..121552835,2	K562	blood:
2	chr12:121550438..121552806-chr12:121556760..121558947,2	K562	blood:
3	chr12:121550877..121553101-chr12:121566808..121569789,2	MCF-7	breast:
4	chr12:121548947..121551862-chr12:121555011..121556681,2	MCF-7	breast:
5	chr12:121550087..121552294-chr12:121646919..121649909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10735074	1.00[AMR][1000 genomes]
rs1169716	1.00[AMR][1000 genomes]
rs1169719	1.00[AMR][1000 genomes]
rs1169723	1.00[AMR][1000 genomes]
rs1169724	1.00[AMR][1000 genomes]
rs1169810	1.00[AMR][1000 genomes]
rs1180013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1180014	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1180016	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1186053	1.00[AMR][1000 genomes]
rs1630178	1.00[AMR][1000 genomes]
rs1653599	1.00[AMR][1000 genomes]
rs1653600	1.00[AMR][1000 genomes]
rs1653615	1.00[AMR][1000 genomes]
rs1718110	1.00[AMR][1000 genomes]
rs1718157	1.00[AMR][1000 genomes]
rs1794891	1.00[AMR][1000 genomes]
rs1794903	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1796418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1975123	1.00[AMR][1000 genomes]
rs208281	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs208285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs208286	1.00[AMR][1000 genomes]
rs208297	1.00[AMR][1000 genomes]
rs2116500	1.00[AMR][1000 genomes]
rs2116501	1.00[AMR][1000 genomes]
rs2393848	1.00[AMR][1000 genomes]
rs2567983	1.00[AMR][1000 genomes]
rs2567998	1.00[AMR][1000 genomes]
rs2568004	1.00[AMR][1000 genomes]
rs2668248	1.00[AMR][1000 genomes]
rs2686365	1.00[AMR][1000 genomes]
rs2686366	1.00[AMR][1000 genomes]
rs2686381	1.00[AMR][1000 genomes]
rs2686383	1.00[AMR][1000 genomes]
rs2708094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3861796	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs494986	0.80[AFR][1000 genomes]
rs512239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs566496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs584133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs657172	0.80[AFR][1000 genomes]
rs657647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs672632	1.00[AMR][1000 genomes]
rs682104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121546600-121551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121550200-121552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:121550400-121552200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:121550400-121552600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:121551000-121552000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:121551000-121552000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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