Variant report

Variant	rs16890188
Chromosome Location	chr6:25180566-25180567
allele	G/T
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	MAFK	chr6:25180440-25180687	HepG2	liver:	n/a	chr6:25180568-25180579 chr6:25180563-25180579 chr6:25180568-25180579 chr6:25180563-25180578 chr6:25180566-25180580
2	MAFK	chr6:25180467-25180659	HepG2	liver:	n/a	chr6:25180568-25180579 chr6:25180563-25180579 chr6:25180568-25180579 chr6:25180563-25180578 chr6:25180566-25180580

No.	Distal block	Cell Line	Cell type
1	chr6:25178331..25181085-chr6:25186884..25189706,2	MCF-7	breast:
2	chr6:25178946..25181215-chr6:27833164..27835187,2	MCF-7	breast:
3	chr6:25179558..25182381-chr6:25192541..25194103,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000217805	TF binding region
ENSG00000222373	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1880274	1.00[EUR][1000 genomes]
rs2394370	1.00[EUR][1000 genomes]
rs56145792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6456649	1.00[EUR][1000 genomes]
rs6456650	1.00[EUR][1000 genomes]
rs6941305	1.00[EUR][1000 genomes]
rs73729776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7753443	1.00[EUR][1000 genomes]
rs9461105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9461110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9467436	1.00[EUR][1000 genomes]
rs9467437	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv830611	chr6:25039374-25199112	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1025694	chr6:25136860-25309450	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1020774	chr6:25154152-25285679	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv538161	chr6:25154152-25285679	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv462663	chr6:25156197-25234884	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv601167	chr6:25156197-25234884	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25175200-25192800	Weak transcription	Aorta	Aorta
2	chr6:25176200-25192800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:25177000-25181200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:25177000-25181800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:25177000-25182200	Weak transcription	NHEK	skin
6	chr6:25177000-25191800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:25177000-25194600	Weak transcription	Placenta	Placenta
8	chr6:25177200-25181600	Weak transcription	HMEC	breast
9	chr6:25177400-25181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:25177600-25180600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:25177600-25182600	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:25178000-25180800	Enhancers	HSMM	muscle
13	chr6:25178800-25180800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:25178800-25181200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:25179000-25181200	Enhancers	Osteobl	bone
16	chr6:25179000-25182600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:25179000-25187000	Weak transcription	Spleen	Spleen
18	chr6:25179200-25181800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:25179600-25180800	Enhancers	HSMMtube	muscle
20	chr6:25179600-25182600	Enhancers	NHDF-Ad	bronchial
21	chr6:25179800-25180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:25179800-25192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:25180000-25180600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:25180000-25181000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:25180000-25181200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:25180000-25181800	Weak transcription	Hela-S3	cervix
27	chr6:25180000-25182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:25180000-25182400	Weak transcription	NHLF	lung
29	chr6:25180000-25182600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:25180200-25182800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:25180400-25180600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:25180400-25180600	Enhancers	Left Ventricle	heart
33	chr6:25180400-25180600	Enhancers	Ovary	ovary
34	chr6:25180400-25181200	Enhancers	Stomach Smooth Muscle	stomach
35	chr6:25180400-25182000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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