Variant report

Variant	rs570481855
Chromosome Location	chr21:45284530-45284531
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	POLR2A	chr21:45284068-45284627	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr21:45284082-45284604	GM19193	blood:	n/a	n/a
3	POLR2A	chr21:45284024-45285976	K562	blood:	n/a	n/a
4	POLR2A	chr21:45284013-45284627	HCT-116	colon:	n/a	n/a
5	USF1	chr21:45284189-45284594	ECC-1	luminal epithelium:	n/a	chr21:45284462-45284478
6	YY1	chr21:45284201-45284619	HepG2	liver:	n/a	chr21:45284287-45284301 chr21:45284595-45284603
7	POLR2A	chr21:45284088-45284573	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:45283967-45284609	HCT-116	colon:	n/a	n/a
9	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
10	MAX	chr21:45284009-45284656	A549	lung:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
11	MAZ	chr21:45284133-45284586	Hela-S3	cervix:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
12	USF1	chr21:45284269-45284549	SK-N-SH_RA	brain:	n/a	chr21:45284462-45284478
13	MAX	chr21:45284099-45284576	K562	blood:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
14	MYC	chr21:45284274-45284603	HUVEC	blood vessel:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
15	USF1	chr21:45284356-45284546	GM12878	blood:	n/a	chr21:45284462-45284478
16	PBX3	chr21:45284008-45284563	A549	lung:	n/a	n/a
17	CTCF	chr21:45284500-45284650	GM12869	blood:	n/a	n/a
18	POLR2A	chr21:45284137-45285814	HEK293	kidney:	n/a	n/a
19	HEY1	chr21:45284001-45284640	K562	blood:	n/a	chr21:45284488-45284503 chr21:45284428-45284437 chr21:45284195-45284210 chr21:45284464-45284479
20	STAT5A	chr21:45283970-45284581	GM12878	blood:	n/a	n/a
21	USF1	chr21:45284276-45284558	H1-hESC	embryonic stem cell:	n/a	chr21:45284462-45284478
22	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
23	POLR2A	chr21:45284050-45285928	K562	blood:	n/a	n/a
24	ZBTB7A	chr21:45283840-45284696	ECC-1	luminal epithelium:	n/a	n/a
25	MXI1	chr21:45284005-45284649	IMR90	lung:	n/a	n/a
26	MAX	chr21:45284009-45284670	A549	lung:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
27	POLR2A	chr21:45284061-45284560	HCT-116	colon:	n/a	n/a
28	POLR2A	chr21:45284096-45284628	GM19099	blood:	n/a	n/a
29	TCF12	chr21:45284015-45284696	ECC-1	luminal epithelium:	n/a	n/a
30	GATA3	chr21:45284031-45284560	MCF-7	breast:	n/a	n/a
31	USF1	chr21:45284260-45284558	A549	lung:	n/a	chr21:45284462-45284478
32	TAF1	chr21:45284102-45284533	K562	blood:	n/a	n/a
33	HDAC2	chr21:45284055-45284580	HepG2	liver:	n/a	n/a
34	MYC	chr21:45284271-45284583	NB4	blood:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
35	POU2F2	chr21:45284067-45284567	GM12878	blood:	n/a	chr21:45284352-45284364
36	ETS1	chr21:45284111-45284532	K562	blood:	n/a	n/a
37	POLR2A	chr21:45284032-45284621	GM12878	blood:	n/a	n/a
38	MAX	chr21:45284058-45284639	HepG2	liver:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
39	MAX	chr21:45284159-45284541	SK-N-SH	brain:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
40	MXI1	chr21:45283199-45286803	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr21:45284046-45287067	GM12892	blood:	n/a	n/a
42	E2F6	chr21:45283985-45284581	H1-hESC	embryonic stem cell:	n/a	chr21:45284553-45284560 chr21:45284551-45284561 chr21:45284553-45284560 chr21:45284550-45284561 chr21:45284553-45284560 chr21:45284552-45284560 chr21:45284549-45284560 chr21:45284552-45284560 chr21:45284552-45284561
43	ZEB1	chr21:45283950-45284646	GM12878	blood:	n/a	n/a
44	MAX	chr21:45284092-45284537	GM12878	blood:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
45	POLR2A	chr21:45284238-45284568	Gliobla	brain:	n/a	n/a
46	POLR2A	chr21:45284074-45284580	GM15510	blood:	n/a	n/a
47	PAX5	chr21:45284307-45284613	GM12878	blood:	n/a	n/a
48	PBX3	chr21:45284171-45284641	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr21:45284440-45284590	GM12870	blood:	n/a	n/a
50	POLR2A	chr21:45283964-45284616	GM12892	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	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
8	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
9	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
10	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
11	chr21:45209429..45212325-chr21:45284308..45286024,2	MCF-7	breast:
12	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
13	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:
14	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
15	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
16	chr21:45282912..45284880-chr21:45350407..45352499,2	K562	blood:
17	chr21:45284356..45288156-chr21:45335500..45338176,5	K562	blood:
18	chr19:2543070..2544057-chr21:45284224..45284926,2	Hela-S3	cervix:
19	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000199598	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000215458	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	chr21:45283400-45285600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr21:45283600-45284600	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr21:45283600-45286400	Active TSS	Fetal Brain Female	brain
4	chr21:45283800-45284600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr21:45283800-45284600	Active TSS	Primary T cells from cord blood	blood
6	chr21:45283800-45284600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:45283800-45285800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:45283800-45286000	Active TSS	Hela-S3	cervix
9	chr21:45283800-45287200	Active TSS	HepG2	liver
10	chr21:45284000-45284600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr21:45284000-45284600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr21:45284000-45284600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr21:45284000-45284600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr21:45284000-45284600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr21:45284000-45284600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr21:45284000-45284600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:45284000-45284600	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr21:45284000-45284600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:45284000-45284600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr21:45284000-45284600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:45284000-45284600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr21:45284000-45284600	Active TSS	Brain Hippocampus Middle	brain
23	chr21:45284000-45284600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:45284000-45284600	Active TSS	Colon Smooth Muscle	Colon
25	chr21:45284000-45284600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr21:45284000-45284600	Active TSS	A549	lung
27	chr21:45284000-45284600	Flanking Active TSS	Dnd41	blood
28	chr21:45284000-45284600	Active TSS	HSMMtube	muscle
29	chr21:45284000-45284600	Active TSS	NHDF-Ad	bronchial
30	chr21:45284000-45285600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:45284000-45285800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr21:45284000-45286000	Active TSS	NH-A	brain
33	chr21:45284000-45286400	Active TSS	Brain Angular Gyrus	brain
34	chr21:45284000-45286400	Active TSS	Colonic Mucosa	Colon
35	chr21:45284000-45286400	Active TSS	Psoas Muscle	Psoas
36	chr21:45284000-45286400	Active TSS	Right Ventricle	heart
37	chr21:45284000-45286400	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr21:45284000-45286600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr21:45284000-45286600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:45284000-45286600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:45284000-45286600	Active TSS	Aorta	Aorta
42	chr21:45284000-45287000	Active TSS	NHLF	lung
43	chr21:45284000-45287400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr21:45284200-45284600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr21:45284200-45284600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:45284200-45284600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:45284200-45284600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr21:45284200-45284600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr21:45284200-45284600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:45284200-45284600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell

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