Variant report

Variant	rs72633023
Chromosome Location	chr8:39957464-39957465
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	CEBPB	chr8:39956378-39958069	Hela-S3	cervix:	n/a	chr8:39957324-39957332
2	NR3C1	chr8:39956963-39957616	A549	lung:	n/a	n/a
3	UBTF	chr8:39957316-39957563	K562	blood:	n/a	n/a
4	CEBPB	chr8:39956411-39957859	IMR90	lung:	n/a	chr8:39957324-39957332
5	GATA3	chr8:39957431-39958033	MCF-7	breast:	n/a	chr8:39957813-39957822 chr8:39957494-39957507
6	GATA2	chr8:39956458-39957647	HUVEC	blood vessel:	n/a	chr8:39956706-39956727 chr8:39956713-39956720 chr8:39956713-39956720 chr8:39956713-39956720 chr8:39956710-39956720 chr8:39956712-39956722 chr8:39957315-39957324 chr8:39957494-39957507
7	SMC3	chr8:39956473-39958002	Hela-S3	cervix:	n/a	n/a
8	BCL3	chr8:39957043-39958074	A549	lung:	n/a	chr8:39957459-39957467
9	MXI1	chr8:39957134-39958173	Hela-S3	cervix:	n/a	n/a
10	GATA3	chr8:39957082-39958022	A549	lung:	n/a	chr8:39957813-39957822 chr8:39957315-39957324 chr8:39957494-39957507
11	UBTF	chr8:39957449-39957553	K562	blood:	n/a	n/a
12	SP1	chr8:39956397-39958056	A549	lung:	n/a	n/a
13	EP300	chr8:39956450-39958009	Hela-S3	cervix:	n/a	chr8:39957348-39957357
14	MYC	chr8:39957049-39958074	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr8:39957064-39958096	A549	lung:	n/a	chr8:39957324-39957332
16	USF2	chr8:39957060-39958085	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr8:39957423-39958046	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr8:39956583-39958053	MCF10A-Er-Src	breast:	n/a	chr8:39957313-39957324 chr8:39957814-39957824 chr8:39957316-39957326 chr8:39957811-39957822 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957814-39957824 chr8:39957815-39957823 chr8:39957316-39957326 chr8:39957315-39957326 chr8:39957814-39957824 chr8:39957315-39957327
19	CHD2	chr8:39957132-39957944	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr8:39957184-39958022	A549	lung:	n/a	chr8:39957324-39957332
21	POLR2A	chr8:39956495-39958159	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr8:39957049-39958054	A549	lung:	n/a	chr8:39957348-39957357
23	RCOR1	chr8:39957317-39957596	K562	blood:	n/a	n/a
24	GATA3	chr8:39956227-39958215	A549	lung:	n/a	chr8:39957813-39957822 chr8:39956706-39956727 chr8:39956713-39956720 chr8:39956713-39956720 chr8:39956713-39956720 chr8:39956710-39956720 chr8:39956712-39956722 chr8:39957315-39957324 chr8:39957494-39957507
25	RCOR1	chr8:39956499-39958006	Hela-S3	cervix:	n/a	n/a
26	FOS	chr8:39957190-39958005	MCF10A-Er-Src	breast:	n/a	chr8:39957313-39957324 chr8:39957814-39957824 chr8:39957316-39957326 chr8:39957811-39957822 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957814-39957824 chr8:39957815-39957823 chr8:39957316-39957326 chr8:39957315-39957326 chr8:39957814-39957824 chr8:39957315-39957327
27	FOS	chr8:39956423-39957505	HUVEC	blood vessel:	n/a	chr8:39957313-39957324 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957315-39957326 chr8:39957315-39957327
28	TBP	chr8:39956529-39958058	Hela-S3	cervix:	n/a	n/a
29	BCL3	chr8:39957020-39957794	A549	lung:	n/a	chr8:39957459-39957467
30	TCF12	chr8:39956326-39958141	A549	lung:	n/a	n/a
31	REST	chr8:39957245-39958016	A549	lung:	n/a	n/a
32	TAL1	chr8:39957374-39957593	K562	blood:	n/a	n/a
33	RAD21	chr8:39956466-39958013	Hela-S3	cervix:	n/a	n/a
34	MAX	chr8:39957191-39957988	Hela-S3	cervix:	n/a	n/a
35	NR3C1	chr8:39957070-39957685	A549	lung:	n/a	n/a
36	PRDM1	chr8:39957331-39957974	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr8:39957216-39958065	A549	lung:	n/a	chr8:39957324-39957332
38	POLR2A	chr8:39957114-39957535	Hela-S3	cervix:	n/a	n/a
39	TEAD4	chr8:39957226-39957704	K562	blood:	n/a	n/a
40	POLR2A	chr8:39956354-39957705	Hela-S3	cervix:	n/a	n/a
41	FOSL2	chr8:39957123-39957981	A549	lung:	n/a	chr8:39957313-39957324 chr8:39957814-39957824 chr8:39957316-39957326 chr8:39957811-39957822 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957814-39957824 chr8:39957815-39957823 chr8:39957316-39957326 chr8:39957814-39957824 chr8:39957315-39957327
42	STAT3	chr8:39956617-39958335	MCF10A-Er-Src	breast:	n/a	n/a
43	MAFK	chr8:39957182-39957635	IMR90	lung:	n/a	n/a
44	JUND	chr8:39957249-39957733	A549	lung:	n/a	chr8:39957313-39957324 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957315-39957327
45	FOS	chr8:39956456-39958092	MCF10A-Er-Src	breast:	n/a	chr8:39957313-39957324 chr8:39957814-39957824 chr8:39957316-39957326 chr8:39957811-39957822 chr8:39957316-39957326 chr8:39957316-39957326 chr8:39957814-39957824 chr8:39957815-39957823 chr8:39957316-39957326 chr8:39957315-39957326 chr8:39957814-39957824 chr8:39957315-39957327
46	SP1	chr8:39956314-39958105	A549	lung:	n/a	n/a
47	MYC	chr8:39957114-39957921	MCF10A-Er-Src	breast:	n/a	n/a
48	MAX	chr8:39956404-39958016	A549	lung:	n/a	n/a
49	E2F4	chr8:39957243-39957840	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr8:39956525-39958042	MCF10A-Er-Src	breast:	n/a	chr8:39956565-39956573

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39957259..39959898-chr8:40032883..40035530,2	MCF-7	breast:
2	chr8:39956140..39958982-chr8:39975836..39978547,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253381	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10282846	0.92[EUR][1000 genomes]
rs10504015	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504017	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114041	0.95[EUR][1000 genomes]
rs16888751	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888756	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888759	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888761	1.00[ASN][1000 genomes]
rs16888764	1.00[ASN][1000 genomes]
rs16888767	0.95[EUR][1000 genomes]
rs16888769	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888772	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888778	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888781	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888784	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16888789	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888796	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888801	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888804	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888805	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888807	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888813	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013398	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28567739	0.92[EUR][1000 genomes]
rs3899741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55644348	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55666363	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55704370	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809387	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55952840	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56114060	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132784	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56180191	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185250	0.95[EUR][1000 genomes]
rs57027362	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57281613	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57326886	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57611903	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653585	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59995728	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60223559	0.92[EUR][1000 genomes]
rs60843978	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61566582	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990154	0.92[EUR][1000 genomes]
rs6990874	0.92[EUR][1000 genomes]
rs72632077	0.92[EUR][1000 genomes]
rs72632084	0.92[EUR][1000 genomes]
rs72632085	0.92[EUR][1000 genomes]
rs72632088	0.92[EUR][1000 genomes]
rs72632098	0.92[EUR][1000 genomes]
rs72633009	1.00[EUR][1000 genomes]
rs72633010	0.95[EUR][1000 genomes]
rs72633011	1.00[EUR][1000 genomes]
rs72633012	1.00[EUR][1000 genomes]
rs72633013	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633014	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633015	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633021	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633024	0.95[EUR][1000 genomes]
rs72633026	0.95[EUR][1000 genomes]
rs72633034	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633036	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633037	0.95[EUR][1000 genomes]
rs72633038	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633040	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633041	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633043	0.95[EUR][1000 genomes]
rs72633044	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633048	0.95[EUR][1000 genomes]
rs72633054	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813461	0.92[EUR][1000 genomes]
rs7822254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840924	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976813	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9785157	0.95[EUR][1000 genomes]
rs9785159	0.95[EUR][1000 genomes]
rs9785174	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981193	1.00[EUR][1000 genomes];1.00[ASN][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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1034355	chr8:39942179-39961432	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39951000-39958600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:39951000-39968000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:39954800-39958000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:39955200-39957600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr8:39955400-39959600	Enhancers	Stomach Mucosa	stomach
6	chr8:39955800-39957800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:39956000-39958600	Weak transcription	HUVEC	blood vessel
8	chr8:39956000-39963800	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:39956200-39958000	Enhancers	Fetal Intestine Small	intestine
10	chr8:39956400-39957600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:39956400-39958000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:39956600-39957800	Enhancers	NHDF-Ad	bronchial
13	chr8:39956800-39958000	Enhancers	Fetal Intestine Large	intestine
14	chr8:39957000-39957600	Enhancers	Placenta	Placenta
15	chr8:39957000-39957600	Flanking Active TSS	Hela-S3	cervix
16	chr8:39957000-39957800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:39957000-39957800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:39957000-39957800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:39957000-39958000	Flanking Active TSS	A549	lung
20	chr8:39957000-39962200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:39957200-39957600	Enhancers	Gastric	stomach
22	chr8:39957200-39957600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr8:39957200-39959600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:39957400-39957600	Enhancers	NHLF	lung

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