Variant report

Variant	rs7281799
Chromosome Location	chr21:45075139-45075140
allele	A/C
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	RFX5	chr21:45074977-45075346	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr21:45074554-45075188	MCF-7	breast:	n/a	chr21:45074872-45074879 chr21:45074861-45074878 chr21:45074872-45074879 chr21:45074871-45074879 chr21:45074872-45074879
3	GATA3	chr21:45074607-45075397	SK-N-SH	brain:	n/a	chr21:45074872-45074879 chr21:45074861-45074878 chr21:45074872-45074879 chr21:45074871-45074879 chr21:45074872-45074879
4	GATA3	chr21:45074611-45075154	MCF-7	breast:	n/a	chr21:45074872-45074879 chr21:45074861-45074878 chr21:45074872-45074879 chr21:45074871-45074879 chr21:45074872-45074879
5	PBX3	chr21:45074880-45075348	SK-N-SH	brain:	n/a	n/a
6	GATA2	chr21:45074442-45075726	HUVEC	blood vessel:	n/a	chr21:45074872-45074879 chr21:45074869-45074883 chr21:45074861-45074878 chr21:45074872-45074879 chr21:45074872-45074879
7	KAP1	chr21:45074923-45075306	U2OS	brain:	n/a	n/a
8	FOS	chr21:45075055-45075228	MCF10A-Er-Src	breast:	n/a	chr21:45075123-45075134
9	GATA3	chr21:45074530-45075427	SK-N-SH	brain:	n/a	chr21:45074872-45074879 chr21:45074861-45074878 chr21:45074872-45074879 chr21:45074871-45074879 chr21:45074872-45074879
10	MAFK	chr21:45075059-45075289	IMR90	lung:	n/a	n/a
11	FOS	chr21:45075020-45075239	MCF10A-Er-Src	breast:	n/a	chr21:45075123-45075134
12	FOS	chr21:45074949-45075315	HUVEC	blood vessel:	n/a	chr21:45075123-45075134

No.	Distal block	Cell Line	Cell type
1	chr21:45071047..45073331-chr21:45073395..45075959,3	MCF-7	breast:
2	chr21:45073951..45077594-chr21:45129226..45132110,3	MCF-7	breast:
3	chr21:44922573..44925185-chr21:45073787..45076386,2	MCF-7	breast:
4	chr21:45061338..45063866-chr21:45074912..45076827,2	MCF-7	breast:

Variant related genes	Relation type
RRP1B	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11910887	1.00[ASN][1000 genomes]
rs17004561	1.00[ASN][1000 genomes]
rs17004562	1.00[ASN][1000 genomes]
rs17004566	1.00[ASN][1000 genomes]
rs17004610	1.00[AMR][1000 genomes]
rs2838310	1.00[ASN][1000 genomes]
rs28569783	1.00[ASN][1000 genomes]
rs28796434	1.00[ASN][1000 genomes]
rs4533	1.00[AMR][1000 genomes]
rs55756526	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55862616	0.83[AFR][1000 genomes]
rs55960114	1.00[AMR][1000 genomes]
rs56035206	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56067270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209261	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56256654	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57127620	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57522592	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58000149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59317243	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59797051	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59821731	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59920822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60538999	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61534144	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7280767	1.00[ASN][1000 genomes]
rs7282615	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7283117	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906593	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73906598	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906599	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906602	1.00[AMR][1000 genomes]
rs73908303	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908304	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908305	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908308	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908311	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908317	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908354	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73908358	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73908360	0.88[AFR][1000 genomes]
rs73908363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73908369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8126807	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8132361	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133015	1.00[AMR][1000 genomes]
rs8133655	1.00[ASN][1000 genomes]
rs9983070	1.00[ASN][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	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45060400-45078600	Weak transcription	Pancreas	Pancrea
2	chr21:45065800-45078600	Weak transcription	Fetal Muscle Leg	muscle
3	chr21:45066200-45075200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:45066200-45077600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:45066600-45077400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:45066600-45078200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:45066600-45078800	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:45066600-45078800	Weak transcription	Right Atrium	heart
9	chr21:45066600-45079000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:45066600-45079000	Weak transcription	Brain Substantia Nigra	brain
11	chr21:45066800-45078800	Weak transcription	Fetal Intestine Small	intestine
12	chr21:45067000-45077800	Weak transcription	Dnd41	blood
13	chr21:45067000-45078600	Weak transcription	HepG2	liver
14	chr21:45068400-45077600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:45072800-45076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:45072800-45076800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr21:45072800-45077400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:45073000-45076800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:45073600-45077600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:45074000-45078800	Weak transcription	K562	blood
21	chr21:45074400-45075400	Enhancers	Adipose Nuclei	Adipose
22	chr21:45074400-45075600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:45074400-45075600	Enhancers	Liver	Liver
24	chr21:45074400-45075600	Enhancers	Hela-S3	cervix
25	chr21:45074400-45075800	Enhancers	HUVEC	blood vessel
26	chr21:45074600-45075200	Enhancers	A549	lung
27	chr21:45074600-45075400	Enhancers	Osteobl	bone
28	chr21:45074600-45075600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:45074600-45075600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:45074600-45075600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr21:45074600-45075600	Enhancers	NHLF	lung
32	chr21:45074600-45075800	Enhancers	NH-A	brain
33	chr21:45074600-45075800	Enhancers	NHDF-Ad	bronchial
34	chr21:45074600-45076400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:45074800-45075200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:45074800-45075800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:45074800-45076000	Enhancers	HMEC	breast
38	chr21:45074800-45076000	Enhancers	NHEK	skin
39	chr21:45074800-45077800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:45074800-45079400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:45075000-45075800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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