Variant report

Variant	rs28547879
Chromosome Location	chr15:79272427-79272428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr15:79270733-79272504	GM12878	blood:	n/a	n/a
2	BHLHE40	chr15:79271876-79272451	GM12878	blood:	n/a	n/a
3	BCL3	chr15:79271800-79272483	A549	lung:	n/a	n/a
4	SMC3	chr15:79271839-79272651	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr15:79268732-79273709	GM12891	blood:	n/a	n/a
6	CTCF	chr15:79272026-79272440	K562	blood:	n/a	n/a
7	CTCF	chr15:79271908-79272530	K562	blood:	n/a	n/a
8	CREB1	chr15:79271955-79272534	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr15:79271929-79272444	A549	lung:	n/a	n/a
10	CTCF	chr15:79271949-79272507	MCF-7	breast:	n/a	n/a
11	POLR2A	chr15:79270756-79272484	GM12892	blood:	n/a	n/a
12	GATA3	chr15:79272014-79272434	T-47D	breast:	n/a	n/a
13	RAD21	chr15:79272005-79272500	IMR90	lung:	n/a	n/a
14	ZNF384	chr15:79272083-79272430	GM12878	blood:	n/a	n/a
15	YY1	chr15:79271857-79272477	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr15:79272029-79272434	IMR90	lung:	n/a	n/a
17	YY1	chr15:79272047-79272446	GM12878	blood:	n/a	n/a
18	RCOR1	chr15:79271768-79272463	GM12878	blood:	n/a	n/a
19	RAD21	chr15:79271990-79272430	HepG2	liver:	n/a	n/a
20	RAD21	chr15:79271931-79272512	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr15:79272052-79272458	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr15:79272027-79272428	T-47D	breast:	n/a	n/a
23	MBD4	chr15:79271900-79272443	HepG2	liver:	n/a	n/a
24	E2F6	chr15:79271780-79272534	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr15:79271961-79272450	H1-hESC	embryonic stem cell:	n/a	n/a
26	USF2	chr15:79272037-79272448	Hela-S3	cervix:	n/a	chr15:79272130-79272141
27	MYBL2	chr15:79271898-79272456	HepG2	liver:	n/a	n/a
28	ELF1	chr15:79271919-79272519	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:79271837-79272650	HCT-116	colon:	n/a	n/a
30	MAX	chr15:79271640-79272552	A549	lung:	n/a	chr15:79272112-79272122
31	ZNF143	chr15:79272088-79272438	K562	blood:	n/a	n/a
32	CTCF	chr15:79271952-79272551	HCT-116	colon:	n/a	n/a
33	MYBL2	chr15:79271829-79272450	HepG2	liver:	n/a	n/a
34	RAD21	chr15:79272001-79272440	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr15:79271488-79272801	A549	lung:	n/a	n/a
36	TCF12	chr15:79271750-79272484	A549	lung:	n/a	n/a
37	BCLAF1	chr15:79271804-79272508	GM12878	blood:	n/a	n/a
38	ZEB1	chr15:79271967-79272479	GM12878	blood:	n/a	n/a
39	MYC	chr15:79271685-79272559	A549	lung:	n/a	chr15:79272112-79272122
40	POLR2A	chr15:79268888-79273418	GM12878	blood:	n/a	n/a
41	RAD21	chr15:79271859-79272582	A549	lung:	n/a	n/a
42	MAX	chr15:79271847-79272436	H1-hESC	embryonic stem cell:	n/a	chr15:79272112-79272122
43	MAX	chr15:79271774-79272469	MCF-7	breast:	n/a	chr15:79272112-79272122
44	SMC3	chr15:79271083-79272456	GM12878	blood:	n/a	n/a
45	RAD21	chr15:79271892-79272573	MCF-7	breast:	n/a	n/a
46	MXI1	chr15:79271726-79272427	IMR90	lung:	n/a	n/a
47	POLR2A	chr15:79270926-79272439	GM12878	blood:	n/a	n/a
48	RAD21	chr15:79271805-79272494	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr15:79271831-79272438	GM12878	blood:	n/a	n/a
50	HDAC2	chr15:79271858-79272536	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79266861..79270074-chr15:79272087..79274367,3	K562	blood:
2	chr15:79242855..79244395-chr15:79271553..79274104,2	MCF-7	breast:
3	chr15:79199697..79200212-chr15:79271797..79272673,2	MCF-7	breast:
4	chr15:79271517..79274349-chr15:79274954..79277693,2	K562	blood:
5	chr15:79201766..79202756-chr15:79271684..79272710,8	MCF-7	breast:
6	chr15:79218320..79219259-chr15:79271509..79272622,7	MCF-7	breast:
7	chr15:79206090..79206967-chr15:79271525..79272450,5	MCF-7	breast:
8	chr15:79271475..79273812-chr15:79473082..79474740,2	MCF-7	breast:
9	chr15:79268574..79270778-chr15:79272295..79274532,2	K562	blood:
10	chr15:79201986..79202755-chr15:79272184..79272728,2	MCF-7	breast:
11	chr15:79217200..79220348-chr15:79270743..79273551,3	MCF-7	breast:
12	chr15:79165092..79167959-chr15:79271269..79275481,5	MCF-7	breast:

No data

Variant related genes	Relation type
RASGRF1	TF binding region
ENSG00000058335	Chromatin interaction
ENSG00000103811	Chromatin interaction
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12101364	1.00[EUR][1000 genomes]
rs16970387	0.81[EUR][1000 genomes]
rs28368520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28391216	1.00[EUR][1000 genomes]
rs28407629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427472	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28461937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28501391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28501618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28513164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28516885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28546944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28549817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28557276	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28565526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28567804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28587174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28603308	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28624404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28674868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28683537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28705105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28709904	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28716558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28718997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28722773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28738778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9920807	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904433	chr15:79243571-79310288	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79244000-79288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:79261200-79280400	Weak transcription	Esophagus	oesophagus
3	chr15:79268400-79272600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:79268800-79273200	Enhancers	Primary B cells from peripheral blood	blood
5	chr15:79270000-79278400	Weak transcription	Fetal Intestine Small	intestine
6	chr15:79270400-79274400	Weak transcription	HSMMtube	muscle
7	chr15:79270800-79272800	Flanking Active TSS	GM12878-XiMat	blood
8	chr15:79270800-79274000	Enhancers	Fetal Muscle Trunk	muscle
9	chr15:79271400-79275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:79271600-79275800	Weak transcription	Lung	lung
11	chr15:79271800-79272600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:79272200-79273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:79272200-79273600	Weak transcription	K562	blood
14	chr15:79272200-79273600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr15:79272200-79274800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:79272200-79275200	Weak transcription	HSMM	muscle
17	chr15:79272200-79275600	Weak transcription	Brain Angular Gyrus	brain
18	chr15:79272200-79275600	Weak transcription	Right Ventricle	heart
19	chr15:79272200-79275800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:79272200-79275800	Weak transcription	Placenta	Placenta
21	chr15:79272200-79275800	Weak transcription	Right Atrium	heart
22	chr15:79272200-79276000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:79272200-79276000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:79272200-79276200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:79272200-79280000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:79272200-79280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:79272200-79280200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:79272200-79280200	Weak transcription	Pancreas	Pancrea
29	chr15:79272200-79280400	Weak transcription	Brain Substantia Nigra	brain
30	chr15:79272200-79280600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:79272200-79284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:79272400-79273600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr15:79272400-79273600	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:79272400-79274000	Weak transcription	Adipose Nuclei	Adipose
35	chr15:79272400-79275000	Weak transcription	HepG2	liver
36	chr15:79272400-79275400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:79272400-79275400	Weak transcription	Spleen	Spleen
38	chr15:79272400-79275800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:79272400-79279600	Weak transcription	Fetal Intestine Large	intestine
40	chr15:79272400-79280200	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:79272400-79286400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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