Variant report

Variant	rs558327690
Chromosome Location	chr21:45284292-45284293
allele	C/T
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	POLR2A	chr21:45284068-45284627	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr21:45284082-45284604	GM19193	blood:	n/a	n/a
3	GTF2F1	chr21:45284235-45284353	K562	blood:	n/a	n/a
4	POLR2A	chr21:45284024-45285976	K562	blood:	n/a	n/a
5	POLR2A	chr21:45284013-45284627	HCT-116	colon:	n/a	n/a
6	USF1	chr21:45284189-45284594	ECC-1	luminal epithelium:	n/a	chr21:45284462-45284478
7	YY1	chr21:45284201-45284619	HepG2	liver:	n/a	chr21:45284287-45284301 chr21:45284595-45284603
8	POLR2A	chr21:45284088-45284573	GM12878	blood:	n/a	n/a
9	USF1	chr21:45284282-45284518	A549	lung:	n/a	chr21:45284462-45284478
10	POLR2A	chr21:45283967-45284609	HCT-116	colon:	n/a	n/a
11	MAX	chr21:45284076-45284565	H1-hESC	embryonic stem cell:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
12	USF1	chr21:45284267-45284510	A549	lung:	n/a	chr21:45284462-45284478
13	GTF2F1	chr21:45284252-45284428	Hela-S3	cervix:	n/a	n/a
14	MAX	chr21:45284009-45284656	A549	lung:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
15	GABPA	chr21:45284017-45284375	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr21:45284158-45284448	K562	blood:	n/a	n/a
17	MAZ	chr21:45284133-45284586	Hela-S3	cervix:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
18	USF1	chr21:45284269-45284549	SK-N-SH_RA	brain:	n/a	chr21:45284462-45284478
19	MXI1	chr21:45284198-45284467	HepG2	liver:	n/a	n/a
20	TCF12	chr21:45284018-45284419	H1-hESC	embryonic stem cell:	n/a	n/a
21	RFX5	chr21:45284287-45284406	GM12878	blood:	n/a	n/a
22	MAX	chr21:45284099-45284576	K562	blood:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
23	MYC	chr21:45284274-45284603	HUVEC	blood vessel:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
24	PBX3	chr21:45284008-45284563	A549	lung:	n/a	n/a
25	POLR2A	chr21:45284137-45285814	HEK293	kidney:	n/a	n/a
26	HEY1	chr21:45284001-45284640	K562	blood:	n/a	chr21:45284488-45284503 chr21:45284428-45284437 chr21:45284195-45284210 chr21:45284464-45284479
27	STAT5A	chr21:45283970-45284581	GM12878	blood:	n/a	n/a
28	USF1	chr21:45284276-45284558	H1-hESC	embryonic stem cell:	n/a	chr21:45284462-45284478
29	MAX	chr21:45283965-45284718	ECC-1	luminal epithelium:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
30	POLR2A	chr21:45284050-45285928	K562	blood:	n/a	n/a
31	ZBTB7A	chr21:45283840-45284696	ECC-1	luminal epithelium:	n/a	n/a
32	MXI1	chr21:45284005-45284649	IMR90	lung:	n/a	n/a
33	MAX	chr21:45284009-45284670	A549	lung:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
34	POLR2A	chr21:45284061-45284560	HCT-116	colon:	n/a	n/a
35	POLR2A	chr21:45284096-45284628	GM19099	blood:	n/a	n/a
36	EBF1	chr21:45284245-45284492	GM12878	blood:	n/a	n/a
37	TCF12	chr21:45284015-45284696	ECC-1	luminal epithelium:	n/a	n/a
38	GATA3	chr21:45284031-45284560	MCF-7	breast:	n/a	n/a
39	USF1	chr21:45284260-45284558	A549	lung:	n/a	chr21:45284462-45284478
40	HA-E2F1	chr21:45283914-45284453	MCF-7	breast:	n/a	n/a
41	TAF1	chr21:45284102-45284533	K562	blood:	n/a	n/a
42	HDAC2	chr21:45284055-45284580	HepG2	liver:	n/a	n/a
43	ZEB1	chr21:45284017-45284353	GM12878	blood:	n/a	n/a
44	PML	chr21:45283959-45284405	MCF-7	breast:	n/a	n/a
45	MYC	chr21:45284271-45284583	NB4	blood:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
46	MYC	chr21:45284224-45284497	GM12878	blood:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
47	POLR2A	chr21:45284009-45284449	GM12891	blood:	n/a	n/a
48	POU2F2	chr21:45284067-45284567	GM12878	blood:	n/a	chr21:45284352-45284364
49	POLR2A	chr21:45284131-45284360	HepG2	liver:	n/a	n/a
50	IRF1	chr21:45284171-45284341	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45282912..45284880-chr21:45350407..45353939,3	K562	blood:
2	chr21:45283298..45287513-chr21:45338855..45343382,5	K562	blood:
3	chr21:45283616..45286882-chr21:45299913..45305661,6	MCF-7	breast:
4	chr21:45284242..45287080-chr21:45339493..45341946,2	MCF-7	breast:
5	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:
6	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
7	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
8	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
9	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
10	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:
11	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
12	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
13	chr21:45282912..45284880-chr21:45350407..45352499,2	K562	blood:
14	chr19:2543070..2544057-chr21:45284224..45284926,2	Hela-S3	cervix:
15	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45283400-45284400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr21:45283400-45285600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr21:45283600-45284400	Enhancers	Placenta	Placenta
4	chr21:45283600-45284600	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr21:45283600-45286400	Active TSS	Fetal Brain Female	brain
6	chr21:45283800-45284400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr21:45283800-45284400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr21:45283800-45284400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:45283800-45284400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr21:45283800-45284600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr21:45283800-45284600	Active TSS	Primary T cells from cord blood	blood
12	chr21:45283800-45284600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:45283800-45285800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:45283800-45286000	Active TSS	Hela-S3	cervix
15	chr21:45283800-45287200	Active TSS	HepG2	liver
16	chr21:45284000-45284400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:45284000-45284400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:45284000-45284400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:45284000-45284400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr21:45284000-45284400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr21:45284000-45284400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:45284000-45284400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr21:45284000-45284400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr21:45284000-45284400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:45284000-45284400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:45284000-45284400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr21:45284000-45284400	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr21:45284000-45284400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr21:45284000-45284400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr21:45284000-45284400	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr21:45284000-45284400	Flanking Active TSS	Fetal Thymus	thymus
32	chr21:45284000-45284400	Flanking Active TSS	Left Ventricle	heart
33	chr21:45284000-45284400	Flanking Active TSS	Ovary	ovary
34	chr21:45284000-45284400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr21:45284000-45284400	Enhancers	Stomach Mucosa	stomach
36	chr21:45284000-45284400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr21:45284000-45284400	Flanking Active TSS	HMEC	breast
38	chr21:45284000-45284400	Flanking Active TSS	HUVEC	blood vessel
39	chr21:45284000-45284400	Flanking Active TSS	K562	blood
40	chr21:45284000-45284600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr21:45284000-45284600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr21:45284000-45284600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr21:45284000-45284600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
44	chr21:45284000-45284600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr21:45284000-45284600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr21:45284000-45284600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:45284000-45284600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr21:45284000-45284600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:45284000-45284600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr21:45284000-45284600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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