Variant report

Variant	rs28461701
Chromosome Location	chr15:76013754-76013755
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	CTCF	chr15:76013349-76013795	GM12878	blood:	n/a	chr15:76013586-76013594 chr15:76013581-76013594 chr15:76013587-76013595 chr15:76013503-76013516 chr15:76013584-76013602 chr15:76013579-76013597 chr15:76013503-76013516 chr15:76013587-76013600
2	RFX5	chr15:76013381-76013776	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr15:76013680-76013830	A549	lung:	n/a	n/a
4	CTCF	chr15:76013267-76013820	MCF-7	breast:	n/a	chr15:76013586-76013594 chr15:76013581-76013594 chr15:76013587-76013595 chr15:76013503-76013516 chr15:76013584-76013602 chr15:76013579-76013597 chr15:76013503-76013516 chr15:76013587-76013600
5	CTCF	chr15:76013351-76013760	H1-hESC	embryonic stem cell:	n/a	chr15:76013586-76013594 chr15:76013581-76013594 chr15:76013587-76013595 chr15:76013503-76013516 chr15:76013584-76013602 chr15:76013579-76013597 chr15:76013503-76013516 chr15:76013587-76013600
6	POLR2A	chr15:76013422-76013776	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr15:76013257-76013797	MCF-7	breast:	n/a	chr15:76013577-76013596 chr15:76013583-76013597 chr15:76013502-76013516 chr15:76013580-76013593 chr15:76013584-76013598 chr15:76013585-76013604 chr15:76013581-76013591
8	CHD2	chr15:76013395-76013763	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr15:76013401-76013799	K562	blood:	n/a	n/a
10	NFIC	chr15:76013333-76013860	ECC-1	luminal epithelium:	n/a	n/a
11	STAT3	chr15:76013487-76013845	MCF10A-Er-Src	breast:	n/a	chr15:76013739-76013751
12	EBF1	chr15:76013470-76013773	GM12878	blood:	n/a	n/a
13	MAX	chr15:76013361-76013832	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr15:76013196-76013917	HCT-116	colon:	n/a	chr15:76013577-76013596 chr15:76013583-76013597 chr15:76013502-76013516 chr15:76013580-76013593 chr15:76013584-76013598 chr15:76013585-76013604 chr15:76013581-76013591
15	MAX	chr15:76013331-76013861	ECC-1	luminal epithelium:	n/a	n/a
16	RCOR1	chr15:76013328-76013816	Hela-S3	cervix:	n/a	n/a
17	GTF2F1	chr15:76013349-76013774	Hela-S3	cervix:	n/a	n/a
18	EP300	chr15:76013558-76013758	GM12878	blood:	n/a	chr15:76013578-76013594
19	TCF12	chr15:76013231-76013929	A549	lung:	n/a	n/a
20	CTCF	chr15:76013660-76013810	HAc	cerebellar:	n/a	n/a
21	SMC3	chr15:76013360-76013813	Hela-S3	cervix:	n/a	chr15:76013581-76013595 chr15:76013590-76013600 chr15:76013506-76013516 chr15:76013586-76013600
22	CTCF	chr15:76013403-76013756	K562	blood:	n/a	chr15:76013586-76013594 chr15:76013581-76013594 chr15:76013587-76013595 chr15:76013503-76013516 chr15:76013584-76013602 chr15:76013579-76013597 chr15:76013503-76013516 chr15:76013587-76013600
23	CEBPB	chr15:76012954-76013918	HCT-116	colon:	n/a	chr15:76013294-76013305
24	STAT3	chr15:76013494-76013850	MCF10A-Er-Src	breast:	n/a	chr15:76013739-76013751
25	RAD21	chr15:76013347-76013833	A549	lung:	n/a	chr15:76013577-76013596 chr15:76013583-76013597 chr15:76013502-76013516 chr15:76013580-76013593 chr15:76013584-76013598 chr15:76013585-76013604 chr15:76013581-76013591
26	MXI1	chr15:76013379-76013841	Hela-S3	cervix:	n/a	n/a
27	NFIC	chr15:76013288-76013944	ECC-1	luminal epithelium:	n/a	n/a
28	RAD21	chr15:76013355-76013852	ECC-1	luminal epithelium:	n/a	chr15:76013577-76013596 chr15:76013583-76013597 chr15:76013502-76013516 chr15:76013580-76013593 chr15:76013584-76013598 chr15:76013585-76013604 chr15:76013581-76013591
29	CEBPB	chr15:76013035-76013769	MCF-7	breast:	n/a	chr15:76013294-76013305
30	SMARCB1	chr15:76013410-76014431	Hela-S3	cervix:	n/a	n/a
31	STAT3	chr15:76013502-76013783	MCF10A-Er-Src	breast:	n/a	chr15:76013739-76013751
32	ZNF143	chr15:76013290-76013769	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr15:76013293-76013801	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr15:76013393-76013777	K562	blood:	n/a	chr15:76013586-76013594 chr15:76013581-76013594 chr15:76013587-76013595 chr15:76013503-76013516 chr15:76013584-76013602 chr15:76013579-76013597 chr15:76013503-76013516 chr15:76013587-76013600
35	RAD21	chr15:76013393-76013763	H1-hESC	embryonic stem cell:	n/a	chr15:76013577-76013596 chr15:76013583-76013597 chr15:76013502-76013516 chr15:76013580-76013593 chr15:76013584-76013598 chr15:76013585-76013604 chr15:76013581-76013591
36	MAX	chr15:76013356-76013780	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr15:76013423-76013755	GM12878	blood:	n/a	chr15:76013577-76013596 chr15:76013583-76013597 chr15:76013502-76013516 chr15:76013580-76013593 chr15:76013584-76013598 chr15:76013585-76013604 chr15:76013581-76013591
38	CEBPB	chr15:76013063-76013777	Hela-S3	cervix:	n/a	chr15:76013294-76013305
39	CBX3	chr15:76013376-76013816	K562	blood:	n/a	n/a
40	FOS	chr15:76013226-76013810	MCF10A-Er-Src	breast:	n/a	chr15:76013518-76013525
41	MAX	chr15:76013383-76013798	K562	blood:	n/a	n/a
42	RCOR1	chr15:76013427-76013899	K562	blood:	n/a	n/a
43	POLR2A	chr15:76013388-76013806	HCT-116	colon:	n/a	n/a
44	JUND	chr15:76013418-76013823	K562	blood:	n/a	chr15:76013518-76013525
45	EP300	chr15:76013421-76013813	GM12878	blood:	n/a	chr15:76013578-76013594
46	RAD21	chr15:76013390-76013767	HepG2	liver:	n/a	chr15:76013577-76013596 chr15:76013583-76013597 chr15:76013502-76013516 chr15:76013580-76013593 chr15:76013584-76013598 chr15:76013585-76013604 chr15:76013581-76013591
47	RAD21	chr15:76013266-76013976	HCT-116	colon:	n/a	chr15:76013577-76013596 chr15:76013583-76013597 chr15:76013502-76013516 chr15:76013580-76013593 chr15:76013584-76013598 chr15:76013585-76013604 chr15:76013581-76013591
48	FOS	chr15:76013268-76013809	MCF10A-Er-Src	breast:	n/a	chr15:76013518-76013525
49	E2F4	chr15:76013449-76013770	MCF10A-Er-Src	breast:	n/a	n/a
50	MAX	chr15:76013157-76014005	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75987941..75988697-chr15:76013170..76014036,2	MCF-7	breast:
2	chr15:76008238..76010676-chr15:76011574..76015052,3	K562	blood:
3	chr15:75978056..75979175-chr15:76013173..76013818,3	MCF-7	breast:
4	chr15:76013605..76015235-chr15:76028170..76030565,2	MCF-7	breast:
5	chr15:75978354..75979242-chr15:76013198..76014075,3	MCF-7	breast:
6	chr15:76010924..76013900-chr15:76093282..76095826,2	MCF-7	breast:
7	chr15:76013372..76014007-chr15:76094391..76095058,2	MCF-7	breast:
8	chr15:76012704..76015019-chr15:76022800..76024419,2	MCF-7	breast:
9	chr15:75953121..75955415-chr15:76012310..76015183,2	MCF-7	breast:

Variant related genes	Relation type
ODF3L1	TF binding region
ENSG00000260288	Chromatin interaction
ENSG00000256530	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12102136	1.00[EUR][1000 genomes]
rs16967508	1.00[EUR][1000 genomes]
rs28372561	1.00[EUR][1000 genomes]
rs28395383	1.00[EUR][1000 genomes]
rs28396803	1.00[EUR][1000 genomes]
rs28398053	1.00[EUR][1000 genomes]
rs28412110	1.00[EUR][1000 genomes]
rs28413637	1.00[EUR][1000 genomes]
rs28414758	1.00[EUR][1000 genomes]
rs28420558	1.00[EUR][1000 genomes]
rs28432282	1.00[EUR][1000 genomes]
rs28447345	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28450740	1.00[EUR][1000 genomes]
rs28504376	1.00[EUR][1000 genomes]
rs28505697	1.00[EUR][1000 genomes]
rs28510991	1.00[EUR][1000 genomes]
rs28519586	1.00[EUR][1000 genomes]
rs28521156	1.00[EUR][1000 genomes]
rs28530778	1.00[EUR][1000 genomes]
rs28533248	1.00[EUR][1000 genomes]
rs28550881	1.00[EUR][1000 genomes]
rs28567605	1.00[EUR][1000 genomes]
rs28628290	1.00[EUR][1000 genomes]
rs28628820	1.00[EUR][1000 genomes]
rs28645531	1.00[EUR][1000 genomes]
rs28664638	1.00[EUR][1000 genomes]
rs28677951	1.00[EUR][1000 genomes]
rs28695912	1.00[EUR][1000 genomes]
rs28711283	1.00[EUR][1000 genomes]
rs28727341	1.00[EUR][1000 genomes]
rs58840197	1.00[EUR][1000 genomes]
rs60159975	1.00[EUR][1000 genomes]
rs73442996	1.00[EUR][1000 genomes]
rs74026527	1.00[EUR][1000 genomes]
rs8026666	1.00[EUR][1000 genomes]
rs8033538	1.00[EUR][1000 genomes]
rs8041384	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
4	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
6	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
7	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76005600-76016000	Weak transcription	Aorta	Aorta
2	chr15:76008200-76015200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr15:76008200-76016000	Weak transcription	Gastric	stomach
4	chr15:76009400-76017600	Enhancers	Stomach Mucosa	stomach
5	chr15:76010000-76015600	Weak transcription	Left Ventricle	heart
6	chr15:76010200-76015200	Weak transcription	Fetal Lung	lung
7	chr15:76010200-76015800	Weak transcription	Adipose Nuclei	Adipose
8	chr15:76010800-76015600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:76011200-76015600	Weak transcription	NH-A	brain
10	chr15:76011200-76015800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:76011200-76015800	Weak transcription	Osteobl	bone
12	chr15:76011200-76016000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:76011400-76015600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:76011400-76015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:76011400-76016000	Weak transcription	HSMMtube	muscle
16	chr15:76011600-76015600	Weak transcription	NHLF	lung
17	chr15:76011600-76016000	Weak transcription	Ovary	ovary
18	chr15:76011600-76016000	Weak transcription	NHDF-Ad	bronchial
19	chr15:76012600-76014400	Enhancers	NHEK	skin
20	chr15:76012800-76014000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:76012800-76014200	Enhancers	Fetal Muscle Trunk	muscle
22	chr15:76013000-76013800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:76013000-76013800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:76013000-76013800	Enhancers	Liver	Liver
25	chr15:76013000-76014000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:76013000-76014000	Flanking Active TSS	Hela-S3	cervix
27	chr15:76013000-76014200	Enhancers	Stomach Smooth Muscle	stomach
28	chr15:76013000-76018600	Enhancers	Fetal Muscle Leg	muscle
29	chr15:76013200-76013800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:76013200-76013800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:76013200-76013800	Enhancers	Fetal Intestine Large	intestine
32	chr15:76013200-76013800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr15:76013200-76013800	Enhancers	A549	lung
34	chr15:76013200-76014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:76013200-76014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:76013200-76014000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:76013200-76014200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:76013200-76016000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr15:76013200-76017800	Enhancers	Fetal Stomach	stomach
40	chr15:76013400-76013800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr15:76013400-76013800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:76013400-76013800	Enhancers	Fetal Intestine Small	intestine
43	chr15:76013400-76013800	Enhancers	Placenta	Placenta
44	chr15:76013400-76013800	Enhancers	Fetal Thymus	thymus
45	chr15:76013400-76013800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
46	chr15:76013400-76013800	Enhancers	Right Atrium	heart
47	chr15:76013400-76013800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr15:76013400-76013800	Flanking Active TSS	Spleen	Spleen
49	chr15:76013400-76013800	Enhancers	GM12878-XiMat	blood
50	chr15:76013400-76013800	Enhancers	HSMM	muscle

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