Variant report

Variant	rs565693857
Chromosome Location	chr21:46493864-46493865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:214)
CpG islands
(count:0)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:214 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr21:46493674-46494864	K562	blood:	n/a	chr21:46494208-46494222 chr21:46494833-46494847 chr21:46494211-46494220 chr21:46494263-46494274 chr21:46494205-46494219
2	POLR2A	chr21:46493532-46493894	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr21:46493407-46493909	HUVEC	blood vessel:	n/a	n/a
4	MEF2A	chr21:46493547-46493867	K562	blood:	n/a	chr21:46493584-46493605
5	POLR2A	chr21:46493263-46495236	K562	blood:	n/a	n/a
6	SRF	chr21:46493630-46493940	K562	blood:	n/a	n/a
7	BCLAF1	chr21:46493450-46494317	K562	blood:	n/a	chr21:46494282-46494295 chr21:46494207-46494220
8	RCOR1	chr21:46493310-46494408	K562	blood:	n/a	n/a
9	POLR2A	chr21:46493501-46494497	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr21:46493074-46495782	MCF-7	breast:	n/a	n/a
11	ZC3H11A	chr21:46493426-46494398	K562	blood:	n/a	n/a
12	BCL3	chr21:46493435-46495331	K562	blood:	n/a	chr21:46494282-46494295 chr21:46494993-46495006 chr21:46494353-46494366 chr21:46494989-46495002 chr21:46494938-46494951 chr21:46494830-46494839 chr21:46494988-46495001 chr21:46494207-46494220
13	CHD2	chr21:46493723-46494288	GM12878	blood:	n/a	n/a
14	GTF2F1	chr21:46493599-46493903	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr21:46493412-46494434	PBDE	blood:	n/a	n/a
16	CHD2	chr21:46493766-46494590	Hela-S3	cervix:	n/a	n/a
17	FOXM1	chr21:46493177-46493910	MCF-7	breast:	n/a	n/a
18	HDAC2	chr21:46493137-46493874	MCF-7	breast:	n/a	n/a
19	POLR2A	chr21:46493084-46495667	K562	blood:	n/a	n/a
20	PML	chr21:46493184-46494595	MCF-7	breast:	n/a	n/a
21	POLR2A	chr21:46493666-46494737	PFSK-1	brain:	n/a	n/a
22	ZNF143	chr21:46493467-46494144	K562	blood:	n/a	n/a
23	POLR2A	chr21:46493678-46494747	GM15510	blood:	n/a	n/a
24	POLR2A	chr21:46493543-46495715	Hela-S3	cervix:	n/a	n/a
25	BHLHE40	chr21:46493364-46494410	K562	blood:	n/a	chr21:46493432-46493448 chr21:46493397-46493413
26	POLR2A	chr21:46493607-46495487	HEK293	kidney:	n/a	n/a
27	POLR2A	chr21:46493615-46495019	ProgFib	skin:	n/a	n/a
28	PBX3	chr21:46493673-46494588	A549	lung:	n/a	n/a
29	TAF7	chr21:46493625-46494412	K562	blood:	n/a	n/a
30	POLR2A	chr21:46493408-46495654	K562	blood:	n/a	n/a
31	POLR2A	chr21:46493601-46495258	HepG2	liver:	n/a	n/a
32	POLR2A	chr21:46492515-46494487	K562	blood:	n/a	n/a
33	POLR2A	chr21:46493379-46495527	K562	blood:	n/a	n/a
34	CBX3	chr21:46493338-46493884	K562	blood:	n/a	n/a
35	YY1	chr21:46493616-46494430	K562	blood:	n/a	chr21:46494208-46494222 chr21:46494211-46494220 chr21:46494263-46494274 chr21:46494205-46494219
36	THAP1	chr21:46493674-46493890	K562	blood:	n/a	n/a
37	POLR2A	chr21:46493378-46494744	MCF10A-Er-Src	breast:	n/a	n/a
38	HEY1	chr21:46493480-46495777	K562	blood:	n/a	chr21:46494290-46494305 chr21:46494988-46495003 chr21:46494931-46494946 chr21:46494197-46494212 chr21:46495443-46495458 chr21:46494236-46494251 chr21:46494206-46494221
39	ZBTB7A	chr21:46493662-46494434	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr21:46493543-46494828	HCT-116	colon:	n/a	n/a
41	POLR2A	chr21:46493579-46493949	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr21:46493002-46494465	MCF-7	breast:	n/a	n/a
43	CREB1	chr21:46493606-46494539	K562	blood:	n/a	n/a
44	POLR2A	chr21:46492353-46497285	IMR90	lung:	n/a	n/a
45	POLR2A	chr21:46493413-46495373	MCF-7	breast:	n/a	n/a
46	EP300	chr21:46493045-46493928	MCF-7	breast:	n/a	chr21:46493401-46493417 chr21:46493394-46493410 chr21:46493433-46493449
47	MAX	chr21:46493553-46495472	HepG2	liver:	n/a	n/a
48	SRF	chr21:46492979-46493913	MCF-7	breast:	n/a	n/a
49	ELF1	chr21:46493637-46494517	MCF-7	breast:	n/a	n/a
50	NR2F2	chr21:46493116-46494030	K562	blood:	n/a	n/a

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31495841..31497461-chr21:46493757..46496010,2	K562	blood:
2	chr21:46354394..46357381-chr21:46492511..46494330,2	MCF-7	breast:
3	chr15:83679404..83681095-chr21:46492672..46494798,2	MCF-7	breast:
4	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
5	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
6	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
7	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
8	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
9	chr21:45526020..45528445-chr21:46493573..46495387,2	K562	blood:
10	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
11	chr21:46358120..46360078-chr21:46493208..46495098,2	MCF-7	breast:
12	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
13	chr21:46493165..46495720-chr21:46513762..46518212,6	MCF-7	breast:
14	chr21:46493210..46496355-chr21:46960101..46962644,7	K562	blood:
15	chr21:46493349..46495379-chr3:49062380..49065165,2	K562	blood:
16	chr21:45758282..45760774-chr21:46492663..46495375,2	K562	blood:
17	chr21:46493355..46495349-chr6:20402517..20405350,2	K562	blood:
18	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
19	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
20	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
21	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
22	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
23	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
24	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
25	chr21:44393563..44395189-chr21:46493572..46495769,2	K562	blood:
26	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
27	chr21:46492557..46494672-chr5:76381901..76384633,2	MCF-7	breast:
28	chr21:46493305..46495041-chr21:46533530..46536007,3	K562	blood:
29	chr21:46329082..46330961-chr21:46492504..46494830,2	MCF-7	breast:
30	chr21:45553290..45555675-chr21:46493657..46496135,2	K562	blood:
31	chr21:46493602..46496021-chr6:27113430..27116414,2	K562	blood:
32	chr21:46493837..46495534-chr21:46954524..46956701,2	K562	blood:
33	chr21:46422255..46425486-chr21:46493644..46496852,6	K562	blood:
34	chr21:46330635..46333372-chr21:46493231..46495849,2	K562	blood:
35	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
36	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
37	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
38	chr21:46413441..46419649-chr21:46493522..46496485,6	K562	blood:
39	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
40	chr21:46492324..46495855-chr21:46960806..46963103,3	K562	blood:
41	chr21:46493459..46495038-chr21:46842304..46845203,2	MCF-7	breast:
42	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
43	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
44	chr21:46411461..46416034-chr21:46491875..46495276,6	MCF-7	breast:
45	chr21:46328608..46330967-chr21:46493545..46495065,2	K562	blood:
46	chr21:46493821..46495801-chr21:46704505..46706122,2	K562	blood:
47	chr21:46493459..46496695-chr21:46925543..46928917,3	K562	blood:
48	chr21:46349055..46351032-chr21:46493561..46495184,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268856	TF binding region
ADARB1	TF binding region
SSR4P1	TF binding region
ENSG00000272825	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000160199	Chromatin interaction
ENSG00000182871	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000267857	Chromatin interaction
ENSG00000224930	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000132846	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000250802	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000183535	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000268805	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000232969	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	esv3355416	chr21:46492024-46497122	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	esv3409662	chr21:46492949-46495497	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	esv3342735	chr21:46493424-46495897	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases
6	esv3325657	chr21:46493549-46496097	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 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	chr21:46493200-46495000	Active TSS	Right Ventricle	heart
2	chr21:46493200-46495400	Active TSS	Fetal Brain Female	brain
3	chr21:46493200-46495400	Active TSS	NHLF	lung
4	chr21:46493200-46495800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:46493400-46494000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:46493400-46494000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr21:46493400-46494000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:46493400-46494200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46493400-46494800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:46493400-46494800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr21:46493400-46494800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:46493400-46495000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr21:46493400-46495000	Active TSS	Duodenum Mucosa	Duodenum
14	chr21:46493400-46495200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr21:46493400-46495400	Active TSS	Rectal Smooth Muscle	rectum
16	chr21:46493400-46495400	Active TSS	A549	lung
17	chr21:46493400-46495600	Active TSS	Primary T cells from cord blood	blood
18	chr21:46493400-46495600	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr21:46493400-46495800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:46493400-46495800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:46493400-46495800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr21:46493400-46496000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr21:46493600-46494000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr21:46493600-46494000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:46493600-46494000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:46493600-46494000	Active TSS	Right Atrium	heart
27	chr21:46493600-46494200	Active TSS	Fetal Kidney	kidney
28	chr21:46493600-46494200	Active TSS	Placenta	Placenta
29	chr21:46493600-46494400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr21:46493600-46494400	Active TSS	Fetal Muscle Trunk	muscle
31	chr21:46493600-46494800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr21:46493600-46494800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:46493600-46494800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:46493600-46495000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:46493600-46495000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:46493600-46495000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:46493600-46495000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr21:46493600-46495000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr21:46493600-46495000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr21:46493600-46495000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr21:46493600-46495000	Active TSS	Fetal Stomach	stomach
42	chr21:46493600-46495000	Active TSS	Pancreas	Pancrea
43	chr21:46493600-46495000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr21:46493600-46495000	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr21:46493600-46495000	Active TSS	HepG2	liver
46	chr21:46493600-46495200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr21:46493600-46495200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr21:46493600-46495200	Active TSS	Brain Germinal Matrix	brain
49	chr21:46493600-46495200	Active TSS	Fetal Muscle Leg	muscle
50	chr21:46493600-46495200	Active TSS	Gastric	stomach

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