Variant report

Variant	rs9977718
Chromosome Location	chr21:45286338-45286339
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	RELA	chr21:45286026-45287020	GM12878	blood:	n/a	chr21:45286793-45286802 chr21:45286793-45286802
2	MAZ	chr21:45284844-45287036	K562	blood:	n/a	chr21:45286457-45286467
3	RELA	chr21:45286093-45287045	GM19099	blood:	n/a	chr21:45286793-45286802 chr21:45286793-45286802
4	IRF1	chr21:45285548-45287165	K562	blood:	n/a	chr21:45285761-45285774 chr21:45285762-45285772 chr21:45286942-45286953 chr21:45286941-45286952 chr21:45285761-45285775 chr21:45286228-45286238 chr21:45286224-45286238 chr21:45285756-45285773 chr21:45285761-45285773 chr21:45285761-45285774 chr21:45286227-45286244 chr21:45286940-45286952 chr21:45286228-45286242 chr21:45285762-45285776 chr21:45285761-45285773 chr21:45286938-45286952 chr21:45285761-45285774 chr21:45286228-45286239 chr21:45286227-45286239 chr21:45285760-45285774 chr21:45285761-45285772 chr21:45286933-45286953 chr21:45285756-45285777 chr21:45285760-45285771
5	UBTF	chr21:45284998-45286403	K562	blood:	n/a	n/a
6	POLR2A	chr21:45285363-45287711	GM12878	blood:	n/a	n/a
7	MXI1	chr21:45286254-45286339	K562	blood:	n/a	n/a
8	TBP	chr21:45286043-45287056	GM12878	blood:	n/a	n/a
9	BATF	chr21:45286058-45286373	GM12878	blood:	n/a	n/a
10	MAX	chr21:45286101-45286339	GM12878	blood:	n/a	n/a
11	POLR2A	chr21:45285590-45287256	GM12878	blood:	n/a	n/a
12	STAT5A	chr21:45286168-45286976	GM12878	blood:	n/a	chr21:45286453-45286465 chr21:45286228-45286239
13	MAX	chr21:45286106-45286353	K562	blood:	n/a	n/a
14	POLR2A	chr21:45284929-45287161	GM12892	blood:	n/a	n/a
15	POLR2A	chr21:45286118-45286992	GM12878	blood:	n/a	n/a
16	POLR2A	chr21:45286036-45286428	SK-N-MC	brain:	n/a	n/a
17	IRF1	chr21:45285564-45286531	K562	blood:	n/a	chr21:45285761-45285774 chr21:45285762-45285772 chr21:45285761-45285775 chr21:45286228-45286238 chr21:45286224-45286238 chr21:45285756-45285773 chr21:45285761-45285773 chr21:45285761-45285774 chr21:45286227-45286244 chr21:45286228-45286242 chr21:45285762-45285776 chr21:45285761-45285773 chr21:45285761-45285774 chr21:45286228-45286239 chr21:45286227-45286239 chr21:45285760-45285774 chr21:45285761-45285772 chr21:45285756-45285777 chr21:45285760-45285771
18	POLR2A	chr21:45285869-45287178	GM12891	blood:	n/a	n/a
19	CHD1	chr21:45285373-45287061	GM12878	blood:	n/a	chr21:45285734-45285744 chr21:45285657-45285667
20	MXI1	chr21:45283199-45286803	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr21:45285810-45288403	HepG2	liver:	n/a	n/a
22	POLR2A	chr21:45284046-45287067	GM12892	blood:	n/a	n/a
23	POLR2A	chr21:45284972-45287040	GM18505	blood:	n/a	n/a
24	POLR2A	chr21:45286244-45287102	GM12892	blood:	n/a	n/a
25	NR2F2	chr21:45285587-45286416	K562	blood:	n/a	n/a
26	POLR2A	chr21:45286020-45286474	K562	blood:	n/a	n/a
27	MAZ	chr21:45285137-45287045	GM12878	blood:	n/a	chr21:45286457-45286467
28	MYC	chr21:45285629-45286457	K562	blood:	n/a	n/a
29	MXI1	chr21:45285856-45287147	GM12878	blood:	n/a	n/a
30	PML	chr21:45285519-45287234	GM12878	blood:	n/a	n/a
31	MTA3	chr21:45285595-45287175	GM12878	blood:	n/a	n/a
32	TBP	chr21:45285595-45286954	K562	blood:	n/a	n/a
33	POLR2A	chr21:45286049-45286830	K562	blood:	n/a	n/a
34	YY1	chr21:45286097-45286437	K562	blood:	n/a	chr21:45286278-45286287 chr21:45286279-45286293
35	ZBTB7A	chr21:45286261-45286528	K562	blood:	n/a	n/a
36	YY1	chr21:45286067-45286549	GM12878	blood:	n/a	chr21:45286278-45286287 chr21:45286279-45286293
37	HEY1	chr21:45286063-45286446	HepG2	liver:	n/a	chr21:45286272-45286287
38	RELA	chr21:45286156-45287007	GM12892	blood:	n/a	chr21:45286793-45286802 chr21:45286793-45286802
39	YY1	chr21:45285941-45286346	SK-N-SH_RA	brain:	n/a	chr21:45286278-45286287 chr21:45286279-45286293
40	POLR2A	chr21:45284854-45287004	GM18526	blood:	n/a	n/a
41	MAX	chr21:45286102-45286412	SK-N-SH	brain:	n/a	n/a
42	MYC	chr21:45285942-45286367	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr21:45285602-45286377	Raji	blood:	n/a	n/a
44	MAX	chr21:45286075-45287263	K562	blood:	n/a	chr21:45286457-45286467
45	POLR2A	chr21:45285635-45287305	GM12878	blood:	n/a	n/a
46	POLR2A	chr21:45286286-45286882	GM12891	blood:	n/a	n/a
47	UBTF	chr21:45284066-45286398	K562	blood:	n/a	n/a
48	YY1	chr21:45286103-45286346	K562	blood:	n/a	chr21:45286278-45286287 chr21:45286279-45286293
49	POU2F2	chr21:45286271-45286970	GM12878	blood:	n/a	chr21:45286452-45286464
50	POLR2A	chr21:45286032-45286385	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45283298..45287513-chr21:45338855..45343382,5	K562	blood:
2	chr21:45283616..45286882-chr21:45299913..45305661,6	MCF-7	breast:
3	chr21:45284242..45287080-chr21:45339493..45341946,2	MCF-7	breast:
4	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:
5	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
6	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
7	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
8	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
9	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
10	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
11	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:
12	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
13	chr21:45284985..45287311-chr21:45344207..45345768,2	K562	blood:
14	chr21:45284356..45288156-chr21:45335500..45338176,5	K562	blood:
15	chr21:45285418..45288376-chr21:45321880..45324021,2	K562	blood:

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000160216	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000199598	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10084560	1.00[AMR][1000 genomes]
rs10084623	1.00[AMR][1000 genomes]
rs11909584	1.00[AMR][1000 genomes]
rs60998087	1.00[AMR][1000 genomes]
rs9306170	1.00[AMR][1000 genomes]
rs9974773	1.00[AMR][1000 genomes]
rs9977077	1.00[AMR][1000 genomes]
rs9981524	1.00[AMR][1000 genomes]
rs9981945	1.00[AMR][1000 genomes]
rs9982231	1.00[AMR][1000 genomes]
rs9983454	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3389400	chr21:45283349-45286397	Weak transcription Active TSS 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	5 gene(s)	inside rSNPs	diseases
9	esv3438548	chr21:45283674-45286522	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45283600-45286400	Active TSS	Fetal Brain Female	brain
2	chr21:45283800-45287200	Active TSS	HepG2	liver
3	chr21:45284000-45286400	Active TSS	Brain Angular Gyrus	brain
4	chr21:45284000-45286400	Active TSS	Colonic Mucosa	Colon
5	chr21:45284000-45286400	Active TSS	Psoas Muscle	Psoas
6	chr21:45284000-45286400	Active TSS	Right Ventricle	heart
7	chr21:45284000-45286400	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr21:45284000-45286600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr21:45284000-45286600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:45284000-45286600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:45284000-45286600	Active TSS	Aorta	Aorta
12	chr21:45284000-45287000	Active TSS	NHLF	lung
13	chr21:45284000-45287400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr21:45284200-45286400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr21:45284200-45286400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr21:45284200-45286400	Active TSS	Fetal Intestine Small	intestine
17	chr21:45284200-45286400	Active TSS	Pancreas	Pancrea
18	chr21:45284200-45286400	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr21:45284200-45286400	Active TSS	HSMM	muscle
20	chr21:45284200-45286400	Active TSS	NHEK	skin
21	chr21:45284400-45286400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:45284400-45286400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:45284400-45286400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:45284400-45286400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:45284400-45286400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:45284400-45286400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:45284400-45286400	Active TSS	Adipose Nuclei	Adipose
28	chr21:45284400-45286400	Active TSS	Brain Cingulate Gyrus	brain
29	chr21:45284400-45286400	Active TSS	Left Ventricle	heart
30	chr21:45284400-45286400	Active TSS	Lung	lung
31	chr21:45284400-45286400	Active TSS	Stomach Smooth Muscle	stomach
32	chr21:45284400-45286400	Active TSS	Osteobl	bone
33	chr21:45284400-45286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr21:45284400-45286600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:45284400-45286600	Active TSS	Esophagus	oesophagus
36	chr21:45284400-45286600	Active TSS	Ovary	ovary
37	chr21:45284400-45286600	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr21:45284400-45286600	Active TSS	Right Atrium	heart
39	chr21:45284600-45286400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr21:45284600-45286400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:45284600-45286400	Active TSS	Muscle Satellite Cultured Cells	--
42	chr21:45284600-45286400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:45285200-45286400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr21:45285200-45287000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr21:45285400-45286400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr21:45285400-45286400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr21:45285400-45286400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:45285400-45286400	Active TSS	Brain Hippocampus Middle	brain
49	chr21:45285400-45286400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr21:45285400-45286400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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