Variant report

Variant	rs545279201
Chromosome Location	chr20:25175387-25175388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr20:25175250-25175450	K562	blood:	n/a	n/a
2	POLR2A	chr20:25175042-25175394	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr20:25175031-25175820	A549	lung:	n/a	n/a
4	POLR2A	chr20:25174831-25177043	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:25174010..25179528-chr20:25225802..25231331,13	MCF-7	breast:
2	chr20:25056370..25059250-chr20:25174569..25177571,3	MCF-7	breast:
3	chr20:25174902..25179249-chr20:25225017..25231959,9	MCF-7	breast:
4	chr20:25173813..25179807-chr20:25203379..25207002,9	MCF-7	breast:
5	chr20:25174588..25176232-chr20:25268673..25270382,2	MCF-7	breast:
6	chr20:24971936..24974944-chr20:25175039..25178381,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENTPD6	TF binding region
ENSG00000100994	Chromatin interaction
ENSG00000197586	Chromatin interaction
ENSG00000100987	Chromatin interaction
ENSG00000101474	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv3340	chr20:25160137-25190540	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	esv3388082	chr20:25175177-25177725	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25168200-25175800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:25169200-25175600	Weak transcription	Fetal Lung	lung
3	chr20:25169400-25175600	Weak transcription	Gastric	stomach
4	chr20:25171400-25175600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr20:25171800-25175600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:25172200-25175800	Weak transcription	Psoas Muscle	Psoas
7	chr20:25172600-25175600	Weak transcription	HMEC	breast
8	chr20:25172800-25175600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:25173000-25175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:25173000-25175400	Weak transcription	Pancreas	Pancrea
11	chr20:25173000-25175600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr20:25173000-25175600	Weak transcription	Placenta	Placenta
13	chr20:25173000-25175800	Weak transcription	Right Atrium	heart
14	chr20:25173200-25175800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:25173200-25176000	Weak transcription	Ovary	ovary
16	chr20:25173400-25175400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr20:25174200-25175600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr20:25174600-25175800	Enhancers	Fetal Thymus	thymus
19	chr20:25175000-25175600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr20:25175000-25175600	Enhancers	Thymus	Thymus
21	chr20:25175000-25175800	Enhancers	Fetal Brain Male	brain
22	chr20:25175000-25175800	Enhancers	Fetal Heart	heart
23	chr20:25175200-25175400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:25175200-25175400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr20:25175200-25175400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr20:25175200-25175400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr20:25175200-25175400	Enhancers	Brain Angular Gyrus	brain
28	chr20:25175200-25175400	Enhancers	HepG2	liver
29	chr20:25175200-25175600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr20:25175200-25175600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr20:25175200-25175600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr20:25175200-25175600	Enhancers	Dnd41	blood
33	chr20:25175200-25175800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr20:25175200-25175800	Enhancers	Primary B cells from peripheral blood	blood
35	chr20:25175200-25175800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr20:25175200-25175800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr20:25175200-25175800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr20:25175200-25175800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr20:25175200-25175800	Weak transcription	Aorta	Aorta
40	chr20:25175200-25175800	Enhancers	Left Ventricle	heart
41	chr20:25175200-25175800	Enhancers	Right Ventricle	heart
42	chr20:25175200-25176000	Enhancers	Lung	lung

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