Variant report

Variant	rs61729219
Chromosome Location	chr15:59063659-59063660
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	POLR2A	chr15:59062367-59063941	K562	blood:	n/a	n/a
2	SIN3A	chr15:59062738-59064694	H1-hESC	embryonic stem cell:	n/a	chr15:59063345-59063354 chr15:59063347-59063356
3	TEAD4	chr15:59063052-59063685	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr15:59063071-59063873	HCT-116	colon:	n/a	n/a
5	ZNF263	chr15:59062933-59064648	HEK293-T-REx	kidney:	n/a	chr15:59064250-59064271
6	TBL1XR1	chr15:59062778-59063786	K562	blood:	n/a	n/a
7	RCOR1	chr15:59062569-59064546	K562	blood:	n/a	n/a
8	YY1	chr15:59063032-59064439	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr15:59062796-59063985	HUVEC	blood vessel:	n/a	n/a
10	ZBTB33	chr15:59062911-59063688	A549	lung:	n/a	n/a
11	E2F4	chr15:59063020-59064437	K562	blood:	n/a	chr15:59063434-59063448 chr15:59063577-59063586
12	TAF1	chr15:59062974-59063750	MCF-7	breast:	n/a	n/a
13	POLR2A	chr15:59062764-59064607	H1-neurons	neurons:	n/a	n/a
14	SP1	chr15:59062681-59063814	A549	lung:	n/a	chr15:59063577-59063586 chr15:59063284-59063294 chr15:59063284-59063294
15	POLR2A	chr15:59062992-59063760	A549	lung:	n/a	n/a
16	POLR2A	chr15:59062689-59063991	Hela-S3	cervix:	n/a	n/a
17	ELF1	chr15:59062965-59063807	GM12878	blood:	n/a	n/a
18	TBP	chr15:59062687-59063738	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:59062936-59063762	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr15:59062773-59063830	HL-60	blood:	n/a	n/a
21	TBP	chr15:59062591-59063687	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr15:59062746-59064000	HepG2	liver:	n/a	n/a
23	UBTF	chr15:59062570-59064626	K562	blood:	n/a	n/a
24	ELF1	chr15:59062903-59063746	MCF-7	breast:	n/a	n/a
25	SMARCB1	chr15:59062941-59064472	Hela-S3	cervix:	n/a	n/a
26	PBX3	chr15:59062919-59063832	A549	lung:	n/a	n/a
27	TAF7	chr15:59063028-59063738	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr15:59063282-59064021	K562	blood:	n/a	n/a
29	CTCF	chr15:59063652-59063802	MCF-7	breast:	n/a	n/a
30	CTCF	chr15:59063290-59063907	GM12878	blood:	n/a	n/a
31	JUND	chr15:59062616-59064449	H1-hESC	embryonic stem cell:	n/a	chr15:59063580-59063589
32	TFAP2C	chr15:59062696-59064580	Hela-S3	cervix:	n/a	chr15:59064224-59064239
33	POLR2A	chr15:59062914-59063821	A549	lung:	n/a	n/a
34	EP300	chr15:59062768-59063770	A549	lung:	n/a	chr15:59063205-59063212 chr15:59063488-59063504
35	POLR2A	chr15:59062955-59063747	HCT-116	colon:	n/a	n/a
36	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
37	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
38	TRIM28	chr15:59062742-59063692	K562	blood:	n/a	n/a
39	MXI1	chr15:59062760-59063999	HepG2	liver:	n/a	chr15:59063345-59063354 chr15:59063345-59063354 chr15:59063347-59063356
40	MYC	chr15:59062673-59063943	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
41	MAX	chr15:59062763-59063723	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
42	IRF1	chr15:59062466-59063733	K562	blood:	n/a	chr15:59063281-59063295
43	HEY1	chr15:59062691-59063760	K562	blood:	n/a	n/a
44	POLR2A	chr15:59062967-59063773	PANC-1	pancreas:	n/a	n/a
45	HA-E2F1	chr15:59063096-59064090	Hela-S3	cervix:	n/a	chr15:59063434-59063448 chr15:59063577-59063586
46	CREB1	chr15:59063089-59063792	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZBTB7A	chr15:59062989-59064439	ECC-1	luminal epithelium:	n/a	n/a
48	GTF2F1	chr15:59062814-59063773	K562	blood:	n/a	n/a
49	MYC	chr15:59062575-59063800	NB4	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
50	EGR1	chr15:59062833-59063977	HCT-116	colon:	n/a	chr15:59063439-59063448 chr15:59063347-59063361 chr15:59063348-59063358 chr15:59063572-59063585 chr15:59063348-59063358 chr15:59063349-59063358

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59063609-59063659	ProgFib	skin:	n/a
2	chr15:59063609-59063659	HCT-116	colon:	n/a
3	chr15:59063609-59063659	K562	blood:	n/a
4	chr15:59063609-59063659	NT2-D1	testis:	n/a
5	chr15:59063609-59063659	Caco-2	colon:	n/a
6	chr15:59063609-59063659	U87	brain:	n/a
7	chr15:59063609-59063659	HEEpiC	esophagus:	n/a
8	chr15:59063609-59063659	MCF-7	breast:	n/a
9	chr15:59063609-59063659	HCF	heart:	n/a
10	chr15:59063609-59063659	SAEC	small airway:	n/a
11	chr15:59063609-59063659	SKMC	muscle:	n/a
12	chr15:59063609-59063659	Hela-S3	cervix:	n/a
13	chr15:59063609-59063659	AoSMC	blood vessel:	n/a
14	chr15:59063609-59063659	AG04450	lung:	fetal
15	chr15:59063609-59063659	GM12892	blood:	n/a
16	chr15:59063609-59063659	HAEpiC	amniotic membrane:	n/a
17	chr15:59063609-59063659	PrEC	prostate:	n/a
18	chr15:59063609-59063659	HL-60	blood:	n/a
19	chr15:59063609-59063659	HEK293	kidney:	embryo
20	chr15:59063609-59063659	AG04449	skin:	fetal
21	chr15:59063609-59063659	IMR90	lung:	fetal
22	chr15:59063609-59063659	ECC-1	luminal epithelium:	n/a
23	chr15:59063609-59063659	NB4	blood:	n/a
24	chr15:59063609-59063659	HIPEpiC	eye:	n/a
25	chr15:59063609-59063659	SK-N-SH	brain:	n/a
26	chr15:59063609-59063659	PFSK-1	brain:	n/a
27	chr15:59063609-59063659	RPTEC	kidney:	n/a
28	chr15:59063609-59063659	BJ	skin:	n/a
29	chr15:59063609-59063659	HCM	heart:	n/a
30	chr15:59063609-59063659	AG10803	skin:	n/a
31	chr15:59063609-59063659	A549	lung:	n/a
32	chr15:59063609-59063659	HPAEpiC	pulmonary alveolar:	n/a
33	chr15:59063609-59063659	NHBE	bronchial:	n/a
34	chr15:59063609-59063659	GM12891	blood:	n/a
35	chr15:59063609-59063659	PANC-1	pancreas:	n/a
36	chr15:59063609-59063659	MCF10A-Er-Src	breast:	n/a
37	chr15:59063609-59063659	AG09309	skin:	n/a
38	chr15:59063609-59063659	HMEC	breast:	n/a
39	chr15:59063609-59063659	Hepatocyte	liver:	n/a
40	chr15:59063609-59063659	HRCEpiC	kidney:	n/a
41	chr15:59063609-59063659	ovcar-3	ovarian:	n/a
42	chr15:59063609-59063659	NHDF-neo	bronchial:	n/a
43	chr15:59063609-59063659	HRE	kidney:	n/a
44	chr15:59063609-59063659	NH-A	brain:	n/a
45	chr15:59063609-59063659	HUVEC	blood vessel:	n/a
46	chr15:59063609-59063659	HCPEpiC	choroid plexus:	n/a
47	chr15:59063609-59063659	SK-N-MC	brain:	n/a
48	chr15:59063609-59063659	GM12878	blood:	n/a
49	chr15:59063609-59063659	HRPEpiC	eye:	n/a
50	chr15:59063609-59063659	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59061870..59064465-chr15:59224425..59227494,5	K562	blood:
2	chr15:59062926..59063673-chr6:32811899..32812879,2	Hela-S3	cervix:
3	chr15:59061712..59064488-chr15:59178344..59181230,2	K562	blood:
4	chr1:146556597..146557184-chr15:59063588..59064562,2	Hela-S3	cervix:
5	chr15:59062962..59064061-chr17:73775541..73776117,3	Hela-S3	cervix:
6	chr10:60145015..60145625-chr15:59063219..59063805,2	Hela-S3	cervix:
7	chr15:58622254..58626014-chr15:59062445..59064794,4	K562	blood:
8	chr15:59051351..59055079-chr15:59061641..59063693,4	K562	blood:
9	chr14:75642948..75643449-chr15:59063013..59063683,2	Hela-S3	cervix:
10	chr15:59063628..59066119-chr15:59070101..59071953,2	MCF-7	breast:
11	chr15:59063370..59063986-chr5:34929328..34930251,2	Hela-S3	cervix:
12	chr15:58549388..58551479-chr15:59062229..59064301,2	K562	blood:
13	chr15:59040077..59045685-chr15:59061303..59067063,14	K562	blood:
14	chr15:59061037..59064884-chr15:59224205..59227723,8	K562	blood:
15	chr15:59040618..59043171-chr15:59061931..59064461,2	MCF-7	breast:
16	chr15:59038832..59043387-chr15:59060936..59065101,7	K562	blood:

Variant related genes	Relation type
ENSG00000245975	TF binding region
ENSG00000245975	CpG island
ENSG00000170348	Chromatin interaction
ENSG00000137776	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000204261	Chromatin interaction
ENSG00000168724	Chromatin interaction
ENSG00000200318	Chromatin interaction
ENSG00000240065	Chromatin interaction
ENSG00000108064	Chromatin interaction
ENSG00000128918	Chromatin interaction
ENSG00000204264	Chromatin interaction
ENSG00000137845	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2052803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55985652	1.00[EUR][1000 genomes]
rs59522599	1.00[EUR][1000 genomes]
rs61739344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74021006	1.00[EUR][1000 genomes]
rs74021007	1.00[EUR][1000 genomes]
rs8024402	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	chr15:59062400-59064200	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr15:59062400-59064800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr15:59062400-59064800	Active TSS	Brain Substantia Nigra	brain
14	chr15:59062400-59065200	Active TSS	Brain Hippocampus Middle	brain
15	chr15:59062400-59065400	Active TSS	Brain Germinal Matrix	brain
16	chr15:59062400-59065800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr15:59062400-59065800	Active TSS	Psoas Muscle	Psoas
18	chr15:59062400-59066000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:59062400-59066200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:59062400-59066400	Active TSS	Right Ventricle	heart
21	chr15:59062400-59066600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr15:59062400-59067400	Active TSS	Right Atrium	heart
23	chr15:59062400-59067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:59062600-59064200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr15:59062600-59064400	Active TSS	Pancreas	Pancrea
26	chr15:59062600-59064600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:59062600-59064600	Active TSS	Esophagus	oesophagus
28	chr15:59062600-59064600	Active TSS	Lung	lung
29	chr15:59062600-59064800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr15:59062600-59064800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:59062600-59064800	Active TSS	Fetal Muscle Trunk	muscle
32	chr15:59062600-59065000	Active TSS	Brain Anterior Caudate	brain
33	chr15:59062600-59065000	Active TSS	Stomach Mucosa	stomach
34	chr15:59062600-59065400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:59062600-59065600	Active TSS	Colonic Mucosa	Colon
36	chr15:59062600-59065800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr15:59062600-59065800	Active TSS	Aorta	Aorta
38	chr15:59062600-59065800	Active TSS	Left Ventricle	heart
39	chr15:59062600-59066000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:59062600-59066400	Active TSS	Ovary	ovary
41	chr15:59062800-59063800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:59062800-59064400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr15:59062800-59064400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:59062800-59064400	Active TSS	Small Intestine	intestine
45	chr15:59062800-59064600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:59062800-59064600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:59062800-59064600	Active TSS	Gastric	stomach
48	chr15:59062800-59064600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr15:59062800-59064800	Active TSS	Brain Angular Gyrus	brain
50	chr15:59062800-59064800	Active TSS	Brain Cingulate Gyrus	brain

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