Variant report

Variant	rs73909540
Chromosome Location	chr21:47879979-47879980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr21:47879692-47880011	K562	blood:	n/a	n/a
2	POLR2A	chr21:47879956-47880086	MCF10A-Er-Src	breast:	n/a	n/a
3	UBTF	chr21:47879677-47880035	K562	blood:	n/a	n/a
4	ZBTB7A	chr21:47878742-47879984	K562	blood:	n/a	n/a
5	UBTF	chr21:47879662-47880074	K562	blood:	n/a	n/a
6	MAZ	chr21:47879622-47879983	K562	blood:	n/a	n/a
7	MYC	chr21:47879783-47880305	MCF10A-Er-Src	breast:	n/a	n/a
8	ZNF384	chr21:47879889-47880051	K562	blood:	n/a	n/a
9	MYC	chr21:47879722-47880061	K562	blood:	n/a	n/a
10	EP300	chr21:47879714-47880364	K562	blood:	n/a	n/a
11	GTF2F1	chr21:47879895-47879998	Hela-S3	cervix:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47858462..47860394-chr21:47879147..47880997,2	MCF-7	breast:
2	chr21:47743254..47746166-chr21:47876901..47880445,4	MCF-7	breast:
3	chr17:57921537..57925513-chr21:47876812..47880311,4	MCF-7	breast:
4	chr21:47879910..47881724-chr21:47920617..47924797,3	K562	blood:
5	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
6	chr21:47639323..47641508-chr21:47879024..47881708,2	MCF-7	breast:
7	chr21:47839369..47841083-chr21:47878532..47880064,2	K562	blood:
8	chr21:47706221..47707965-chr21:47878068..47881386,3	K562	blood:
9	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
10	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
11	chr21:47877118..47880921-chr21:48053345..48058142,9	K562	blood:
12	chr21:47879656..47881987-chr21:47889177..47890960,2	MCF-7	breast:
13	chr21:47878168..47880063-chr21:48054664..48057491,4	MCF-7	breast:

No data

Variant related genes	Relation type
DIP2A-IT1	TF binding region
ENSG00000160310	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000225043	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000223901	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160285	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73909539	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
4	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
5	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
6	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
7	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
12	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
13	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
14	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
15	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
16	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
17	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
18	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
19	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
20	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
21	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
22	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
23	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
24	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
25	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
26	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
27	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
28	esv3337772	chr21:47877824-47880672	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a
29	esv3437335	chr21:47878049-47880897	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47877200-47880200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr21:47877200-47880200	Active TSS	A549	lung
3	chr21:47877200-47880400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr21:47877400-47880000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr21:47877400-47880200	Active TSS	Fetal Kidney	kidney
6	chr21:47877400-47880200	Active TSS	NHLF	lung
7	chr21:47877400-47880400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:47877600-47880000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:47877600-47880200	Active TSS	Left Ventricle	heart
10	chr21:47877600-47880200	Active TSS	Ovary	ovary
11	chr21:47877600-47880200	Active TSS	Psoas Muscle	Psoas
12	chr21:47877600-47880400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:47877600-47880400	Active TSS	HSMMtube	muscle
14	chr21:47877600-47880600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:47877800-47880000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr21:47877800-47880000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:47877800-47880000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr21:47877800-47880000	Active TSS	Small Intestine	intestine
19	chr21:47877800-47880200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr21:47877800-47880200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr21:47877800-47880400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:47877800-47880600	Active TSS	NHDF-Ad	bronchial
23	chr21:47878000-47880000	Active TSS	Brain Angular Gyrus	brain
24	chr21:47878000-47880000	Active TSS	Brain Substantia Nigra	brain
25	chr21:47878000-47880000	Active TSS	Colon Smooth Muscle	Colon
26	chr21:47878000-47880000	Active TSS	Hela-S3	cervix
27	chr21:47878000-47880200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:47878000-47880200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:47878000-47880200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr21:47878000-47880200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:47878000-47880200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr21:47878000-47880200	Active TSS	Fetal Intestine Small	intestine
33	chr21:47878000-47880200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr21:47878000-47880200	Active TSS	HSMM	muscle
35	chr21:47878000-47880400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr21:47878000-47880400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr21:47878000-47880400	Active TSS	Fetal Intestine Large	intestine
38	chr21:47878000-47880400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr21:47878000-47880600	Active TSS	HMEC	breast
40	chr21:47878400-47880000	Active TSS	HepG2	liver
41	chr21:47878400-47880600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:47878600-47880000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:47878800-47880400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:47879000-47880200	Active TSS	Right Atrium	heart
45	chr21:47879200-47880000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr21:47879400-47880200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr21:47879600-47880000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:47879600-47880000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:47879600-47880000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr21:47879600-47880000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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