Variant report

Variant	rs7261401
Chromosome Location	chr20:25041987-25041988
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr20:25041928-25042409	HepG2	liver:	n/a	n/a
2	FOXA1	chr20:25041937-25042397	HepG2	liver:	n/a	n/a
3	FOXA1	chr20:25041882-25042427	HepG2	liver:	n/a	n/a
4	FOXA1	chr20:25041963-25042341	HepG2	liver:	n/a	n/a
5	RCOR1	chr20:25041617-25042281	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:25037721..25039878-chr20:25041897..25043408,2	MCF-7	breast:
2	chr20:24978936..24981881-chr20:25041310..25043065,2	MCF-7	breast:
3	chr20:25032527..25035027-chr20:25040068..25042955,2	K562	blood:
4	chr20:25030752..25032686-chr20:25040138..25042817,2	MCF-7	breast:
5	chr20:25039944..25042062-chr20:25044050..25046004,2	K562	blood:
6	chr20:25036962..25040055-chr20:25041540..25043577,3	MCF-7	breast:

No data

Variant related genes	Relation type
ACSS1	TF binding region
ENSG00000154930	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11908037	0.90[AMR][1000 genomes]
rs56273742	1.00[AMR][1000 genomes]
rs57218388	1.00[AMR][1000 genomes]
rs7270236	1.00[AMR][1000 genomes]
rs7271250	0.81[AMR][1000 genomes]
rs73348712	0.90[AMR][1000 genomes]
rs73906055	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73906057	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73906063	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906067	0.90[AMR][1000 genomes]
rs73906070	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906071	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73906072	1.00[AMR][1000 genomes]
rs73906076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906077	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8114108	1.00[AMR][1000 genomes]
rs8123929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	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
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25039600-25042800	Enhancers	Gastric	stomach
2	chr20:25039600-25044600	Enhancers	Pancreas	Pancrea
3	chr20:25039600-25044800	Weak transcription	Brain Anterior Caudate	brain
4	chr20:25039600-25044800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr20:25039800-25042200	Bivalent Enhancer	HepG2	liver
6	chr20:25039800-25043200	Enhancers	Fetal Intestine Small	intestine
7	chr20:25039800-25044800	Weak transcription	Right Ventricle	heart
8	chr20:25039800-25045400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr20:25040000-25042800	Enhancers	Stomach Mucosa	stomach
10	chr20:25040200-25045200	Weak transcription	Brain Hippocampus Middle	brain
11	chr20:25040200-25045200	Weak transcription	Left Ventricle	heart
12	chr20:25040200-25046000	Weak transcription	Spleen	Spleen
13	chr20:25040400-25042400	Weak transcription	Primary B cells from cord blood	blood
14	chr20:25040400-25042400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr20:25040400-25042600	Weak transcription	Placenta	Placenta
16	chr20:25040400-25045200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr20:25040600-25042400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr20:25040600-25043200	Weak transcription	Fetal Thymus	thymus
19	chr20:25040600-25045800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr20:25040800-25045600	Weak transcription	Dnd41	blood
21	chr20:25040800-25046200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr20:25041000-25046200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr20:25041200-25042600	Enhancers	A549	lung
24	chr20:25041400-25043000	Enhancers	Fetal Intestine Large	intestine
25	chr20:25041600-25042400	Enhancers	Duodenum Mucosa	Duodenum
26	chr20:25041600-25042600	Enhancers	Liver	Liver
27	chr20:25041800-25042000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr20:25041800-25042800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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