Variant report

Variant	rs8029869
Chromosome Location	chr15:59064278-59064279
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	SIN3A	chr15:59062738-59064694	H1-hESC	embryonic stem cell:	n/a	chr15:59063345-59063354 chr15:59063347-59063356
2	ZNF263	chr15:59062933-59064648	HEK293-T-REx	kidney:	n/a	chr15:59064250-59064271
3	RCOR1	chr15:59062569-59064546	K562	blood:	n/a	n/a
4	YY1	chr15:59063032-59064439	SK-N-SH	brain:	n/a	n/a
5	E2F4	chr15:59063020-59064437	K562	blood:	n/a	chr15:59063434-59063448 chr15:59063577-59063586
6	POLR2A	chr15:59062764-59064607	H1-neurons	neurons:	n/a	n/a
7	UBTF	chr15:59062570-59064626	K562	blood:	n/a	n/a
8	SMARCB1	chr15:59062941-59064472	Hela-S3	cervix:	n/a	n/a
9	JUND	chr15:59062616-59064449	H1-hESC	embryonic stem cell:	n/a	chr15:59063580-59063589
10	TFAP2C	chr15:59062696-59064580	Hela-S3	cervix:	n/a	chr15:59064224-59064239
11	MAX	chr15:59062652-59064516	Hela-S3	cervix:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357
12	MAX	chr15:59062656-59064499	K562	blood:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357
13	ZBTB7A	chr15:59062989-59064439	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr15:59064266-59064466	K562	blood:	n/a	n/a
15	MAX	chr15:59062630-59064571	A549	lung:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357
16	POLR2A	chr15:59062602-59064692	H1-hESC	embryonic stem cell:	n/a	n/a
17	GATA3	chr15:59064062-59064499	T-47D	breast:	n/a	n/a
18	RAD21	chr15:59062734-59064333	H1-hESC	embryonic stem cell:	n/a	chr15:59063574-59063584
19	RCOR1	chr15:59062723-59064634	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr15:59062789-59064575	K562	blood:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357
21	TBP	chr15:59064219-59064634	Hela-S3	cervix:	n/a	n/a
22	BHLHE40	chr15:59064126-59064545	K562	blood:	n/a	n/a
23	CREB1	chr15:59062970-59064336	A549	lung:	n/a	n/a
24	YY1	chr15:59063042-59064347	GM12892	blood:	n/a	n/a
25	MAZ	chr15:59062790-59064564	Hela-S3	cervix:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357
26	CHD1	chr15:59063451-59064323	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr15:59064170-59064291	A549	lung:	n/a	n/a
28	NFIC	chr15:59062651-59064339	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr15:59063999-59064383	MCF-7	breast:	n/a	n/a
30	ZNF143	chr15:59063961-59064449	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAZ	chr15:59062433-59064689	IMR90	lung:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357
32	REST	chr15:59064019-59064721	H1-neurons	neurons:	n/a	chr15:59064487-59064500
33	GTF2F1	chr15:59064141-59064506	Hela-S3	cervix:	n/a	n/a
34	E2F1	chr15:59063111-59064359	Hela-S3	cervix:	n/a	chr15:59063434-59063448 chr15:59063577-59063586
35	USF2	chr15:59064139-59064550	H1-hESC	embryonic stem cell:	n/a	n/a
36	CCNT2	chr15:59062498-59064377	K562	blood:	n/a	n/a
37	RAD21	chr15:59062678-59064479	IMR90	lung:	n/a	chr15:59063574-59063584
38	POLR2A	chr15:59062620-59064515	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:59064122-59064341	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr15:59062957-59064347	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr15:59064183-59064363	GM12878	blood:	n/a	n/a
42	MAX	chr15:59064150-59064475	K562	blood:	n/a	n/a
43	GATA3	chr15:59062728-59064605	A549	lung:	n/a	n/a
44	MXI1	chr15:59062451-59064723	IMR90	lung:	n/a	chr15:59063345-59063354 chr15:59063345-59063354 chr15:59063347-59063356
45	BRCA1	chr15:59064103-59064454	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr15:59062730-59064289	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:59062939-59064288	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr15:59062804-59064462	H1-hESC	embryonic stem cell:	n/a	chr15:59063574-59063584
49	CHD2	chr15:59062836-59064473	Hela-S3	cervix:	n/a	n/a
50	WRNIP1	chr15:59064233-59064431	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59061870..59064465-chr15:59224425..59227494,5	K562	blood:
2	chr15:59061712..59064488-chr15:59178344..59181230,2	K562	blood:
3	chr15:59063778..59064335-chr6:36085361..36086329,2	NB4	blood:
4	chr1:146556597..146557184-chr15:59063588..59064562,2	Hela-S3	cervix:
5	chr15:59064130..59065710-chr15:59066898..59069288,2	MCF-7	breast:
6	chr15:58622254..58626014-chr15:59062445..59064794,4	K562	blood:
7	chr15:59063628..59066119-chr15:59070101..59071953,2	MCF-7	breast:
8	chr15:58549388..58551479-chr15:59062229..59064301,2	K562	blood:
9	chr15:59040077..59045685-chr15:59061303..59067063,14	K562	blood:
10	chr15:59064062..59066974-chr15:59068078..59069600,2	MCF-7	breast:
11	chr15:59061037..59064884-chr15:59224205..59227723,8	K562	blood:
12	chr15:59040618..59043171-chr15:59061931..59064461,2	MCF-7	breast:
13	chr15:59038832..59043387-chr15:59060936..59065101,7	K562	blood:

Variant related genes	Relation type
ENSG00000245975	TF binding region
ENSG00000128918	Chromatin interaction
ENSG00000137845	Chromatin interaction
ENSG00000137776	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs16940570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940574	0.85[ASW][hapmap];0.80[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940584	0.85[ASW][hapmap];0.80[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940602	0.85[ASW][hapmap];0.80[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940638	0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16940723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940751	0.85[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16940766	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940768	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940771	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16953381	1.00[AMR][1000 genomes]
rs2013878	0.85[ASW][hapmap];0.80[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs2414609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4277293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56935364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56942476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083702	1.00[EUR][1000 genomes]
rs57845422	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58667875	1.00[AMR][1000 genomes]
rs58937576	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61678411	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6494024	1.00[EUR][1000 genomes]
rs7163948	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7164104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167240	0.85[ASW][hapmap];0.80[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168066	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7172673	1.00[EUR][1000 genomes]
rs7173048	1.00[EUR][1000 genomes]
rs7174279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183811	1.00[AMR][1000 genomes]
rs74016920	1.00[EUR][1000 genomes]
rs74016943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017270	1.00[EUR][1000 genomes]
rs74017281	1.00[EUR][1000 genomes]
rs74017286	1.00[EUR][1000 genomes]
rs74017293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017301	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017302	0.82[AFR][1000 genomes]
rs74018920	1.00[EUR][1000 genomes]
rs74021007	1.00[AMR][1000 genomes]
rs74021013	1.00[AMR][1000 genomes]
rs8025475	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8027618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031250	0.85[ASW][hapmap];0.80[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032451	1.00[EUR][1000 genomes]
rs8033613	1.00[EUR][1000 genomes]
rs8043275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs881117	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59062200-59064400	Active TSS	Hela-S3	cervix
2	chr15:59062200-59064800	Active TSS	HMEC	breast
3	chr15:59062200-59065000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:59062200-59065000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr15:59062200-59065000	Active TSS	K562	blood
6	chr15:59062200-59065400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:59062200-59066000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:59062200-59066000	Active TSS	NHLF	lung
9	chr15:59062200-59066200	Active TSS	HSMMtube	muscle
10	chr15:59062200-59067800	Active TSS	GM12878-XiMat	blood
11	chr15:59062400-59064800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:59062400-59064800	Active TSS	Brain Substantia Nigra	brain
13	chr15:59062400-59065200	Active TSS	Brain Hippocampus Middle	brain
14	chr15:59062400-59065400	Active TSS	Brain Germinal Matrix	brain
15	chr15:59062400-59065800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr15:59062400-59065800	Active TSS	Psoas Muscle	Psoas
17	chr15:59062400-59066000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:59062400-59066200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:59062400-59066400	Active TSS	Right Ventricle	heart
20	chr15:59062400-59066600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr15:59062400-59067400	Active TSS	Right Atrium	heart
22	chr15:59062400-59067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:59062600-59064400	Active TSS	Pancreas	Pancrea
24	chr15:59062600-59064600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:59062600-59064600	Active TSS	Esophagus	oesophagus
26	chr15:59062600-59064600	Active TSS	Lung	lung
27	chr15:59062600-59064800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr15:59062600-59064800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:59062600-59064800	Active TSS	Fetal Muscle Trunk	muscle
30	chr15:59062600-59065000	Active TSS	Brain Anterior Caudate	brain
31	chr15:59062600-59065000	Active TSS	Stomach Mucosa	stomach
32	chr15:59062600-59065400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:59062600-59065600	Active TSS	Colonic Mucosa	Colon
34	chr15:59062600-59065800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr15:59062600-59065800	Active TSS	Aorta	Aorta
36	chr15:59062600-59065800	Active TSS	Left Ventricle	heart
37	chr15:59062600-59066000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:59062600-59066400	Active TSS	Ovary	ovary
39	chr15:59062800-59064400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:59062800-59064400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:59062800-59064400	Active TSS	Small Intestine	intestine
42	chr15:59062800-59064600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:59062800-59064600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:59062800-59064600	Active TSS	Gastric	stomach
45	chr15:59062800-59064600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr15:59062800-59064800	Active TSS	Brain Angular Gyrus	brain
47	chr15:59062800-59064800	Active TSS	Brain Cingulate Gyrus	brain
48	chr15:59062800-59064800	Active TSS	Fetal Intestine Small	intestine
49	chr15:59062800-59064800	Active TSS	A549	lung
50	chr15:59062800-59065200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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