Variant report

Variant	rs6050420
Chromosome Location	chr20:25171830-25171831
allele	C/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	CTCF	chr20:25171780-25171930	AoAF	blood vessel:	n/a	n/a
2	CTCF	chr20:25171760-25171910	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25171254..25173860-chr20:25228240..25230126,2	MCF-7	breast:
2	chr20:25167222..25169276-chr20:25170020..25172814,2	MCF-7	breast:

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

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs6037027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6037035	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6037036	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6037037	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6037047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6037054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050347	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050352	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050355	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050356	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050357	1.00[AMR][1000 genomes]
rs6050364	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050365	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6050417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341190	1.00[AMR][1000 genomes]
rs73343081	1.00[AMR][1000 genomes]
rs73904022	1.00[AMR][1000 genomes]

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	esv1002059	chr20:25164737-25175153	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25168200-25175800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:25168800-25175200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:25169200-25175600	Weak transcription	Fetal Lung	lung
4	chr20:25169400-25175200	Weak transcription	Lung	lung
5	chr20:25169400-25175600	Weak transcription	Gastric	stomach
6	chr20:25170800-25173000	Enhancers	Right Atrium	heart
7	chr20:25170800-25173200	Enhancers	Ovary	ovary
8	chr20:25171200-25173000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:25171200-25173000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:25171400-25172000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr20:25171400-25172600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr20:25171400-25173000	Enhancers	Placenta	Placenta
13	chr20:25171400-25173000	Enhancers	Pancreas	Pancrea
14	chr20:25171400-25173200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:25171400-25175600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr20:25171600-25172000	Enhancers	Fetal Heart	heart
17	chr20:25171600-25172000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr20:25171600-25172200	Enhancers	Psoas Muscle	Psoas
19	chr20:25171600-25173400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr20:25171600-25175200	Weak transcription	Right Ventricle	heart
21	chr20:25171800-25172000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:25171800-25172400	Weak transcription	Left Ventricle	heart
23	chr20:25171800-25173600	Weak transcription	Aorta	Aorta
24	chr20:25171800-25175600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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