Variant report

Variant	rs61733821
Chromosome Location	chr20:22665978-22665979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr20:22665883-22666001	K562	blood:	n/a	n/a
2	CTCF	chr20:22665920-22666070	RPTEC	kidney:	n/a	n/a
3	CTCF	chr20:22665896-22666060	A549	lung:	n/a	n/a
4	SMC3	chr20:22665914-22666028	HepG2	liver:	n/a	n/a
5	CTCF	chr20:22665860-22666010	Caco-2	colon:	n/a	n/a
6	CTCF	chr20:22665880-22666030	HEK293	kidney:	n/a	n/a
7	CTCF	chr20:22665873-22666083	MCF-7	breast:	n/a	n/a
8	CTCF	chr20:22665920-22666070	HMEC	breast:	n/a	n/a
9	CTCF	chr20:22665860-22666010	AoAF	blood vessel:	n/a	n/a
10	RAD21	chr20:22665743-22666161	HepG2	liver:	n/a	n/a
11	CTCF	chr20:22665778-22666091	K562	blood:	n/a	n/a
12	CTCF	chr20:22665880-22666030	SAEC	small airway:	n/a	n/a
13	CTCF	chr20:22665837-22666075	HepG2	liver:	n/a	n/a
14	CTCF	chr20:22665941-22666036	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr20:22665725-22666123	HepG2	liver:	n/a	n/a
16	CTCF	chr20:22665840-22665990	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr20:22665760-22666030	K562	blood:	n/a	n/a
18	CTCF	chr20:22665905-22666051	Gliobla	brain:	n/a	n/a
19	CTCF	chr20:22665900-22666050	Caco-2	colon:	n/a	n/a
20	CTCF	chr20:22665932-22666008	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr20:22665730-22666166	MCF-7	breast:	n/a	n/a
22	RAD21	chr20:22665680-22666201	MCF-7	breast:	n/a	n/a
23	RAD21	chr20:22665607-22666268	A549	lung:	n/a	n/a
24	CTCF	chr20:22665920-22666070	A549	lung:	n/a	n/a
25	CTCF	chr20:22665840-22665990	HEK293	kidney:	n/a	n/a
26	CEBPB	chr20:22665908-22666165	HepG2	liver:	n/a	n/a
27	RAD21	chr20:22665655-22666228	A549	lung:	n/a	n/a
28	RAD21	chr20:22665792-22666071	HepG2	liver:	n/a	n/a
29	CTCF	chr20:22665885-22666079	MCF-7	breast:	n/a	n/a
30	CTCF	chr20:22665919-22666118	GM12878	blood:	n/a	n/a
31	CEBPB	chr20:22665746-22666220	MCF-7	breast:	n/a	n/a
32	CTCF	chr20:22665824-22666092	MCF-7	breast:	n/a	n/a
33	CTCF	chr20:22665766-22666105	A549	lung:	n/a	n/a
34	CTCF	chr20:22665880-22666030	MCF-7	breast:	n/a	n/a
35	CTCF	chr20:22665840-22665990	MCF-7	breast:	n/a	n/a
36	RAD21	chr20:22665747-22666168	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr20:22665900-22666050	HCFaa	heart:	n/a	n/a
38	CTCF	chr20:22665788-22666069	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr20:22665880-22666030	NHEK	skin:	n/a	n/a
40	RAD21	chr20:22665778-22666129	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr20:22665915-22666024	GM12892	blood:	n/a	n/a
42	CTCF	chr20:22665905-22666006	HepG2	liver:	n/a	n/a
43	CTCF	chr20:22665860-22666010	HMF	breast:	n/a	n/a
44	CTCF	chr20:22665880-22666030	HepG2	liver:	n/a	n/a
45	CTCF	chr20:22665840-22665990	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr20:22665852-22666085	NHEK	skin:	n/a	n/a
47	CTCF	chr20:22665733-22666190	MCF-7	breast:	n/a	n/a
48	RAD21	chr20:22665790-22666111	Hela-S3	cervix:	n/a	n/a
49	RAD21	chr20:22665699-22666280	MCF-7	breast:	n/a	n/a
50	SMC3	chr20:22665768-22666258	Hela-S3	cervix:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA2-4	chr20:22665754-22665982	XLOC_013686

No data

Variant related genes	Relation type
ENSG00000230400	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1011104	1.00[EUR][1000 genomes]
rs11907127	1.00[EUR][1000 genomes]
rs1999861	1.00[EUR][1000 genomes]
rs57880938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58191632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59162037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6036174	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6048248	1.00[EUR][1000 genomes]
rs6048250	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6048256	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6048265	1.00[EUR][1000 genomes]
rs6113765	1.00[EUR][1000 genomes]
rs72470562	1.00[EUR][1000 genomes]
rs73306740	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22660000-22667000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:22660200-22669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:22663800-22667000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:22664200-22667200	Enhancers	A549	lung
5	chr20:22664600-22666000	Enhancers	K562	blood
6	chr20:22664800-22666000	Enhancers	Adipose Nuclei	Adipose
7	chr20:22664800-22666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:22664800-22667200	Enhancers	Primary hematopoietic stem cells	blood
9	chr20:22664800-22667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr20:22664800-22667200	Enhancers	HUVEC	blood vessel
11	chr20:22664800-22669400	Weak transcription	Gastric	stomach
12	chr20:22664800-22672600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr20:22665000-22666800	Enhancers	Spleen	Spleen
14	chr20:22665000-22667000	Weak transcription	Stomach Mucosa	stomach
15	chr20:22665000-22667200	Enhancers	Lung	lung
16	chr20:22665200-22666000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr20:22665200-22666200	Enhancers	Primary B cells from cord blood	blood
18	chr20:22665200-22667000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr20:22665200-22667000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr20:22665400-22667000	Weak transcription	HSMM	muscle
21	chr20:22665400-22671000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:22665600-22666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:22665600-22666800	Weak transcription	Placenta	Placenta
24	chr20:22665600-22667000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:22665600-22672400	Weak transcription	Ovary	ovary
26	chr20:22665800-22666000	Weak transcription	Left Ventricle	heart
27	chr20:22665800-22666800	Weak transcription	Monocytes-CD14+_RO01746	blood

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