Variant report

Variant	rs7273998
Chromosome Location	chr20:25040885-25040886
allele	A/G
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	FOS	chr20:25040779-25041069	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr20:25040836-25041026	HepG2	liver:	n/a	chr20:25040921-25040932

No.	Distal block	Cell Line	Cell type
1	chr20:25032527..25035027-chr20:25040068..25042955,2	K562	blood:
2	chr20:25030752..25032686-chr20:25040138..25042817,2	MCF-7	breast:
3	chr20:25039944..25042062-chr20:25044050..25046004,2	K562	blood:

Variant related genes	Relation type
ACSS1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7262697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7266133	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25039400-25041000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:25039600-25041000	Enhancers	Fetal Muscle Trunk	muscle
3	chr20:25039600-25041000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr20:25039600-25041800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:25039600-25042800	Enhancers	Gastric	stomach
6	chr20:25039600-25044600	Enhancers	Pancreas	Pancrea
7	chr20:25039600-25044800	Weak transcription	Brain Anterior Caudate	brain
8	chr20:25039600-25044800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr20:25039800-25041400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:25039800-25041400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr20:25039800-25042200	Bivalent Enhancer	HepG2	liver
12	chr20:25039800-25043200	Enhancers	Fetal Intestine Small	intestine
13	chr20:25039800-25044800	Weak transcription	Right Ventricle	heart
14	chr20:25039800-25045400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr20:25040000-25041000	Enhancers	GM12878-XiMat	blood
16	chr20:25040000-25042800	Enhancers	Stomach Mucosa	stomach
17	chr20:25040200-25041600	Weak transcription	Liver	Liver
18	chr20:25040200-25045200	Weak transcription	Brain Hippocampus Middle	brain
19	chr20:25040200-25045200	Weak transcription	Left Ventricle	heart
20	chr20:25040200-25046000	Weak transcription	Spleen	Spleen
21	chr20:25040400-25041400	Weak transcription	Fetal Intestine Large	intestine
22	chr20:25040400-25041600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr20:25040400-25042400	Weak transcription	Primary B cells from cord blood	blood
24	chr20:25040400-25042400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr20:25040400-25042600	Weak transcription	Placenta	Placenta
26	chr20:25040400-25045200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr20:25040600-25041400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:25040600-25042400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr20:25040600-25043200	Weak transcription	Fetal Thymus	thymus
30	chr20:25040600-25045800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr20:25040800-25045600	Weak transcription	Dnd41	blood
32	chr20:25040800-25046200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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