Variant report

Variant	rs57880938
Chromosome Location	chr20:22667137-22667138
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	ELF1	chr20:22666673-22667146	HepG2	liver:	n/a	chr20:22666891-22666904
2	SIX5	chr20:22666481-22667237	A549	lung:	n/a	n/a
3	GABPA	chr20:22666450-22667359	MCF-7	breast:	n/a	n/a
4	ETS1	chr20:22666485-22667192	A549	lung:	n/a	n/a
5	ELF1	chr20:22666690-22667155	GM12878	blood:	n/a	chr20:22666891-22666904
6	GABPA	chr20:22666620-22667218	SK-N-SH	brain:	n/a	n/a
7	YY1	chr20:22666668-22667164	H1-hESC	embryonic stem cell:	n/a	n/a
8	ELF1	chr20:22666679-22667203	HepG2	liver:	n/a	chr20:22666891-22666904
9	POLR2A	chr20:22666945-22667138	MCF-7	breast:	n/a	n/a
10	PBX3	chr20:22666700-22667199	SK-N-SH	brain:	n/a	n/a
11	ELF1	chr20:22666458-22667329	HCT-116	colon:	n/a	chr20:22666891-22666904
12	ELF1	chr20:22666443-22667238	A549	lung:	n/a	chr20:22666891-22666904
13	PBX3	chr20:22666630-22667189	SK-N-SH	brain:	n/a	n/a
14	ZNF143	chr20:22666677-22667166	H1-hESC	embryonic stem cell:	n/a	n/a
15	NFYB	chr20:22666717-22667156	K562	blood:	n/a	chr20:22666903-22666918
16	MXI1	chr20:22666356-22667185	IMR90	lung:	n/a	n/a
17	POLR2A	chr20:22666791-22667223	H1-neurons	neurons:	n/a	n/a
18	SIX5	chr20:22666681-22667142	H1-hESC	embryonic stem cell:	n/a	n/a
19	SETDB1	chr20:22666945-22667308	U2OS	brain:	n/a	n/a
20	ELF1	chr20:22666547-22667328	HCT-116	colon:	n/a	chr20:22666891-22666904
21	GABPA	chr20:22666595-22667290	A549	lung:	n/a	n/a
22	SP1	chr20:22666611-22667192	A549	lung:	n/a	n/a
23	GABPA	chr20:22666617-22667287	MCF-7	breast:	n/a	n/a
24	KAP1	chr20:22666784-22667300	HEK293	kidney:	n/a	n/a
25	POLR2A	chr20:22666899-22667138	HCT-116	colon:	n/a	n/a
26	POLR2A	chr20:22666890-22667145	A549	lung:	n/a	n/a
27	ELF1	chr20:22666516-22667198	MCF-7	breast:	n/a	chr20:22666891-22666904
28	ELF1	chr20:22666619-22667157	SK-N-SH	brain:	n/a	chr20:22666891-22666904
29	GABPA	chr20:22666617-22667206	SK-N-SH	brain:	n/a	n/a
30	ELF1	chr20:22666557-22667252	A549	lung:	n/a	chr20:22666891-22666904
31	SP1	chr20:22666560-22667225	A549	lung:	n/a	n/a
32	ELF1	chr20:22666699-22667175	K562	blood:	n/a	chr20:22666891-22666904
33	GABPA	chr20:22666515-22667293	A549	lung:	n/a	n/a
34	ELF1	chr20:22666478-22667227	SK-N-SH	brain:	n/a	chr20:22666891-22666904
35	POLR2A	chr20:22666854-22667181	MCF10A-Er-Src	breast:	n/a	n/a
36	ELF1	chr20:22666398-22667371	MCF-7	breast:	n/a	chr20:22666891-22666904

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22666267..22668441-chr20:22670071..22672660,2	MCF-7	breast:

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]
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]
rs61733821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22660200-22669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:22664200-22667200	Enhancers	A549	lung
3	chr20:22664800-22667200	Enhancers	Primary hematopoietic stem cells	blood
4	chr20:22664800-22667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:22664800-22667200	Enhancers	HUVEC	blood vessel
6	chr20:22664800-22669400	Weak transcription	Gastric	stomach
7	chr20:22664800-22672600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:22665000-22667200	Enhancers	Lung	lung
9	chr20:22665400-22671000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:22665600-22672400	Weak transcription	Ovary	ovary
11	chr20:22666000-22669800	Weak transcription	Adipose Nuclei	Adipose
12	chr20:22666000-22672400	Weak transcription	K562	blood
13	chr20:22666800-22667200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:22666800-22667200	Enhancers	Brain Hippocampus Middle	brain
15	chr20:22666800-22667200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr20:22666800-22667200	Enhancers	Placenta	Placenta
17	chr20:22666800-22667200	Enhancers	Right Atrium	heart
18	chr20:22666800-22668200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:22666800-22669400	Weak transcription	Spleen	Spleen
20	chr20:22667000-22667200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:22667000-22667200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr20:22667000-22667200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr20:22667000-22667200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:22667000-22667200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:22667000-22667200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:22667000-22667200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr20:22667000-22667200	Enhancers	Right Ventricle	heart
28	chr20:22667000-22667200	Enhancers	Stomach Mucosa	stomach
29	chr20:22667000-22667200	Enhancers	HSMM	muscle
30	chr20:22667000-22667200	Enhancers	HSMMtube	muscle
31	chr20:22667000-22667400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr20:22667000-22667400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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