Variant report

Variant	rs73450542
Chromosome Location	chr21:40174920-40174921
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	HNF4G	chr21:40174589-40174959	HepG2	liver:	n/a	chr21:40174673-40174695 chr21:40174782-40174797
2	MYBL2	chr21:40174525-40174996	HepG2	liver:	n/a	n/a
3	CREB1	chr21:40174490-40175013	HepG2	liver:	n/a	n/a
4	FOXA1	chr21:40174476-40174937	HepG2	liver:	n/a	chr21:40174864-40174879
5	JUND	chr21:40174555-40175048	A549	lung:	n/a	n/a
6	MAFK	chr21:40174565-40174965	HepG2	liver:	n/a	n/a
7	TEAD4	chr21:40174545-40175023	A549	lung:	n/a	n/a
8	GATA3	chr21:40174510-40175150	A549	lung:	n/a	n/a
9	FOXA2	chr21:40174328-40175159	HepG2	liver:	n/a	n/a
10	NR3C1	chr21:40174451-40174964	A549	lung:	n/a	n/a
11	FOXA2	chr21:40174414-40175157	A549	lung:	n/a	n/a
12	TAL1	chr21:40174513-40175028	K562	blood:	n/a	n/a
13	EP300	chr21:40174430-40175064	HepG2	liver:	n/a	n/a
14	EP300	chr21:40174472-40175001	HepG2	liver:	n/a	n/a
15	MAX	chr21:40174234-40175693	A549	lung:	n/a	n/a
16	ARID3A	chr21:40174515-40175205	HepG2	liver:	n/a	n/a
17	SP1	chr21:40174388-40175279	A549	lung:	n/a	n/a
18	TCF12	chr21:40174500-40174940	A549	lung:	n/a	n/a
19	FOXA2	chr21:40174483-40174973	HepG2	liver:	n/a	n/a
20	FOSL2	chr21:40174480-40175135	A549	lung:	n/a	n/a
21	MXI1	chr21:40174545-40175009	HepG2	liver:	n/a	chr21:40174883-40174898
22	FOXA1	chr21:40174475-40175146	HepG2	liver:	n/a	chr21:40174864-40174879
23	HDAC2	chr21:40174560-40174999	HepG2	liver:	n/a	chr21:40174625-40174639
24	STAT5A	chr21:40174671-40175043	K562	blood:	n/a	n/a
25	FOS	chr21:40174675-40174935	MCF10A-Er-Src	breast:	n/a	n/a
26	GATA3	chr21:40174292-40175339	A549	lung:	n/a	chr21:40174312-40174320
27	TCF12	chr21:40174213-40175300	A549	lung:	n/a	n/a
28	REST	chr21:40174469-40174999	A549	lung:	n/a	n/a
29	EP300	chr21:40174299-40175241	A549	lung:	n/a	n/a
30	SP1	chr21:40174504-40174969	HepG2	liver:	n/a	n/a
31	TBP	chr21:40174502-40175117	HepG2	liver:	n/a	n/a
32	EP300	chr21:40174572-40174991	K562	blood:	n/a	n/a
33	MAFK	chr21:40174570-40175037	HepG2	liver:	n/a	n/a
34	JUN	chr21:40174620-40175000	HepG2	liver:	n/a	n/a
35	NR3C1	chr21:40174615-40175009	A549	lung:	n/a	n/a
36	CEBPB	chr21:40174140-40175073	A549	lung:	n/a	chr21:40174363-40174374 chr21:40174365-40174376 chr21:40174363-40174376
37	MAX	chr21:40174334-40175084	A549	lung:	n/a	n/a
38	FOXA2	chr21:40174445-40175107	A549	lung:	n/a	n/a
39	SIX5	chr21:40174676-40174959	A549	lung:	n/a	n/a
40	FOXA1	chr21:40174533-40175057	HepG2	liver:	n/a	chr21:40174864-40174879
41	ZNF384	chr21:40174764-40175057	K562	blood:	n/a	n/a
42	JUND	chr21:40174402-40175014	HepG2	liver:	n/a	n/a
43	FOSL2	chr21:40174614-40174921	A549	lung:	n/a	n/a
44	FOXA1	chr21:40174442-40175129	HepG2	liver:	n/a	chr21:40174864-40174879
45	CEBPB	chr21:40174203-40174932	HepG2	liver:	n/a	chr21:40174363-40174374 chr21:40174365-40174376 chr21:40174363-40174376
46	TEAD4	chr21:40174577-40175066	HepG2	liver:	n/a	n/a
47	BCL3	chr21:40174451-40174951	A549	lung:	n/a	chr21:40174486-40174495
48	EP300	chr21:40174540-40174982	HepG2	liver:	n/a	n/a
49	TEAD4	chr21:40174407-40175045	K562	blood:	n/a	n/a
50	CREB1	chr21:40174673-40174930	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40174647..40179577-chr21:40285247..40287797,5	MCF-7	breast:

Variant related genes	Relation type
ETS2	TF binding region
ENSG00000234035	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28483264	1.00[AMR][1000 genomes]
rs57817437	1.00[AMR][1000 genomes]
rs61015650	1.00[AMR][1000 genomes]
rs7281397	1.00[AMR][1000 genomes]
rs73442786	1.00[AMR][1000 genomes]
rs73448879	1.00[AMR][1000 genomes]
rs73448890	1.00[AMR][1000 genomes]
rs73448897	1.00[AMR][1000 genomes]
rs73450541	1.00[AMR][1000 genomes]
rs8126940	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	47 gene(s)	inside rSNPs	diseases
3	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40163400-40175400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:40165000-40176600	Enhancers	Fetal Intestine Large	intestine
3	chr21:40166400-40175400	Enhancers	Fetal Intestine Small	intestine
4	chr21:40166400-40176000	Weak transcription	Pancreas	Pancrea
5	chr21:40166600-40177000	Weak transcription	Gastric	stomach
6	chr21:40167000-40176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:40167600-40175400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:40169600-40176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:40169800-40175800	Weak transcription	NHLF	lung
10	chr21:40170400-40176600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:40170800-40176400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr21:40171000-40175800	Weak transcription	NH-A	brain
13	chr21:40171200-40176600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:40171400-40176400	Weak transcription	Hela-S3	cervix
15	chr21:40171600-40176000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:40172000-40177000	Enhancers	HepG2	liver
17	chr21:40172600-40176800	Enhancers	K562	blood
18	chr21:40172600-40177200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:40173000-40176000	Weak transcription	Small Intestine	intestine
20	chr21:40173000-40176800	Weak transcription	Right Atrium	heart
21	chr21:40173400-40176800	Enhancers	Placenta	Placenta
22	chr21:40173600-40176800	Enhancers	Stomach Mucosa	stomach
23	chr21:40173800-40175200	Weak transcription	Osteobl	bone
24	chr21:40173800-40176600	Weak transcription	HMEC	breast
25	chr21:40174000-40175200	Flanking Active TSS	A549	lung
26	chr21:40174000-40176000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr21:40174000-40176200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr21:40174000-40176400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:40174000-40176400	Enhancers	Duodenum Mucosa	Duodenum
30	chr21:40174200-40176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:40174200-40176600	Enhancers	Fetal Lung	lung
32	chr21:40174400-40175400	Weak transcription	NHEK	skin
33	chr21:40174400-40176600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr21:40174400-40176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:40174600-40175400	Weak transcription	Esophagus	oesophagus
36	chr21:40174600-40175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:40174600-40176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:40174800-40175200	Weak transcription	Colonic Mucosa	Colon
39	chr21:40174800-40175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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