Variant report

Variant	rs60544586
Chromosome Location	chr15:76013194-76013195
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	chr15:76013148-76013416	K562	blood:	n/a	chr15:76013294-76013305
2	CEBPB	chr15:76013112-76013702	HepG2	liver:	n/a	chr15:76013294-76013305
3	CEBPB	chr15:76012954-76013918	HCT-116	colon:	n/a	chr15:76013294-76013305
4	CEBPB	chr15:76013108-76013702	A549	lung:	n/a	chr15:76013294-76013305
5	CEBPB	chr15:76013078-76013720	A549	lung:	n/a	chr15:76013294-76013305
6	CEBPB	chr15:76013035-76013769	MCF-7	breast:	n/a	chr15:76013294-76013305
7	CEBPB	chr15:76013063-76013777	Hela-S3	cervix:	n/a	chr15:76013294-76013305
8	CEBPB	chr15:76013106-76013498	IMR90	lung:	n/a	chr15:76013294-76013305
9	MAX	chr15:76013157-76014005	HCT-116	colon:	n/a	n/a
10	CEBPB	chr15:76013124-76013716	K562	blood:	n/a	chr15:76013294-76013305
11	CTCF	chr15:76013128-76013902	HCT-116	colon:	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
12	CTCF	chr15:76013180-76013330	GM12874	blood:	n/a	n/a
13	CEBPB	chr15:76013124-76013687	H1-hESC	embryonic stem cell:	n/a	chr15:76013294-76013305
14	CTCF	chr15:76013097-76013938	A549	lung:	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
15	CEBPB	chr15:76013110-76013786	MCF-7	breast:	n/a	chr15:76013294-76013305

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	chr15:76010924..76013900-chr15:76093282..76095826,2	MCF-7	breast:
5	chr15:76012704..76015019-chr15:76022800..76024419,2	MCF-7	breast:
6	chr15:75953121..75955415-chr15:76012310..76015183,2	MCF-7	breast:

Variant related genes	Relation type
ODF3L1	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12102136	1.00[AMR][1000 genomes]
rs16967294	1.00[AMR][1000 genomes]
rs28372561	1.00[AMR][1000 genomes]
rs28395383	1.00[AMR][1000 genomes]
rs28396803	1.00[AMR][1000 genomes]
rs28398053	1.00[AMR][1000 genomes]
rs28412110	1.00[AMR][1000 genomes]
rs28413637	1.00[AMR][1000 genomes]
rs28414758	1.00[AMR][1000 genomes]
rs28420558	1.00[AMR][1000 genomes]
rs28432282	1.00[AMR][1000 genomes]
rs28450740	1.00[AMR][1000 genomes]
rs28504376	1.00[AMR][1000 genomes]
rs28505697	1.00[AMR][1000 genomes]
rs28510991	1.00[AMR][1000 genomes]
rs28519586	1.00[AMR][1000 genomes]
rs28530778	1.00[AMR][1000 genomes]
rs28533248	1.00[AMR][1000 genomes]
rs28550881	1.00[AMR][1000 genomes]
rs28567605	1.00[AMR][1000 genomes]
rs28628290	1.00[AMR][1000 genomes]
rs28628820	1.00[AMR][1000 genomes]
rs28645531	1.00[AMR][1000 genomes]
rs28664638	1.00[AMR][1000 genomes]
rs28677951	1.00[AMR][1000 genomes]
rs28695912	1.00[AMR][1000 genomes]
rs28711283	1.00[AMR][1000 genomes]
rs28727341	1.00[AMR][1000 genomes]
rs3991368	1.00[AMR][1000 genomes]
rs56686272	1.00[AMR][1000 genomes]
rs57267837	1.00[AMR][1000 genomes]
rs58167659	1.00[AMR][1000 genomes]
rs58689645	1.00[AMR][1000 genomes]
rs59944002	1.00[AMR][1000 genomes]
rs60159975	1.00[AMR][1000 genomes]
rs60465775	1.00[AMR][1000 genomes]
rs73439281	1.00[AMR][1000 genomes]
rs73439290	1.00[AMR][1000 genomes]
rs73439302	1.00[AMR][1000 genomes]
rs73442996	1.00[AMR][1000 genomes]
rs73444997	1.00[AMR][1000 genomes]
rs8033538	1.00[AMR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76005200-76013400	Weak transcription	Esophagus	oesophagus
2	chr15:76005600-76016000	Weak transcription	Aorta	Aorta
3	chr15:76006000-76013400	Weak transcription	Psoas Muscle	Psoas
4	chr15:76006400-76013200	Weak transcription	Fetal Intestine Large	intestine
5	chr15:76006400-76013400	Weak transcription	Fetal Heart	heart
6	chr15:76006400-76013600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:76006600-76013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:76008200-76013200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:76008200-76013200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr15:76008200-76013200	Weak transcription	Spleen	Spleen
11	chr15:76008200-76013400	Weak transcription	Colonic Mucosa	Colon
12	chr15:76008200-76015200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:76008200-76016000	Weak transcription	Gastric	stomach
14	chr15:76008400-76013400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:76009400-76017600	Enhancers	Stomach Mucosa	stomach
16	chr15:76010000-76015600	Weak transcription	Left Ventricle	heart
17	chr15:76010200-76013400	Weak transcription	Lung	lung
18	chr15:76010200-76015200	Weak transcription	Fetal Lung	lung
19	chr15:76010200-76015800	Weak transcription	Adipose Nuclei	Adipose
20	chr15:76010400-76013400	Weak transcription	Right Ventricle	heart
21	chr15:76010800-76013400	Weak transcription	Right Atrium	heart
22	chr15:76010800-76015600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:76011000-76013200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:76011200-76013200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:76011200-76013200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:76011200-76013200	Weak transcription	Fetal Stomach	stomach
27	chr15:76011200-76013200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:76011200-76013400	Weak transcription	HMEC	breast
29	chr15:76011200-76015600	Weak transcription	NH-A	brain
30	chr15:76011200-76015800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:76011200-76015800	Weak transcription	Osteobl	bone
32	chr15:76011200-76016000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:76011400-76013200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:76011400-76013200	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:76011400-76013200	Weak transcription	A549	lung
36	chr15:76011400-76013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:76011400-76013400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:76011400-76013400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:76011400-76013400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:76011400-76013400	Weak transcription	HSMM	muscle
41	chr15:76011400-76015600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:76011400-76015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:76011400-76016000	Weak transcription	HSMMtube	muscle
44	chr15:76011600-76013400	Weak transcription	K562	blood
45	chr15:76011600-76015600	Weak transcription	NHLF	lung
46	chr15:76011600-76016000	Weak transcription	Ovary	ovary
47	chr15:76011600-76016000	Weak transcription	NHDF-Ad	bronchial
48	chr15:76012600-76014400	Enhancers	NHEK	skin
49	chr15:76012800-76014000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:76012800-76014200	Enhancers	Fetal Muscle Trunk	muscle

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