Variant report

Variant	rs60077003
Chromosome Location	chr15:55701395-55701396
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr15:55699444-55701440	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr15:55699368-55701461	SK-N-SH	brain:	n/a	chr15:55700730-55700745
3	GTF3C2	chr15:55700766-55701779	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr15:55699725-55701667	Hela-S3	cervix:	n/a	chr15:55701553-55701564

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55656332..55658633-chr15:55699668..55701557,2	MCF-7	breast:
2	chr15:55687261..55690621-chr15:55699123..55703142,5	K562	blood:
3	chr15:55607556..55615100-chr15:55699006..55703115,13	K562	blood:
4	chr15:55609877..55611698-chr15:55698360..55701817,3	MCF-7	breast:
5	chr15:55701169..55703678-chr15:55710788..55712535,2	MCF-7	breast:
6	chr15:55580643..55583951-chr15:55698978..55701737,3	K562	blood:
7	chr15:55608625..55613147-chr15:55698683..55702764,8	MCF-7	breast:
8	chr15:55689930..55691529-chr15:55699148..55701673,2	MCF-7	breast:
9	chr15:55607682..55613892-chr15:55697623..55703247,7	K562	blood:
10	chr15:55631303..55633200-chr15:55699872..55702073,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCPG1	TF binding region
ENSG00000225973	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000260916	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58179138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58223678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58847654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61673362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408834	0.83[AFR][1000 genomes]
rs8026645	0.85[AFR][1000 genomes]
rs8027611	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8043435	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv904243	chr15:55627528-55734158	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv520799	chr15:55645661-55760522	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv904244	chr15:55687969-55770911	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55698400-55701400	Active TSS	K562	blood
2	chr15:55698800-55701400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:55699000-55701400	Active TSS	A549	lung
4	chr15:55699200-55701800	Active TSS	Hela-S3	cervix
5	chr15:55699400-55701400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:55699400-55701400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:55699400-55701400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr15:55699400-55701400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:55699400-55701400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr15:55699400-55701400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:55699400-55701400	Active TSS	Colonic Mucosa	Colon
12	chr15:55699400-55701400	Active TSS	Colon Smooth Muscle	Colon
13	chr15:55699400-55701400	Active TSS	Fetal Lung	lung
14	chr15:55699400-55701400	Active TSS	Psoas Muscle	Psoas
15	chr15:55699400-55701400	Active TSS	Right Ventricle	heart
16	chr15:55699400-55701400	Active TSS	GM12878-XiMat	blood
17	chr15:55699400-55701400	Active TSS	NHDF-Ad	bronchial
18	chr15:55699400-55701600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:55699400-55701600	Active TSS	Brain Angular Gyrus	brain
20	chr15:55699400-55701600	Active TSS	Brain Anterior Caudate	brain
21	chr15:55699400-55701600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr15:55699400-55701600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr15:55699600-55701400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr15:55699600-55701400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr15:55699600-55701400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:55699600-55701400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr15:55699600-55701400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr15:55699600-55701400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:55699600-55701400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:55699600-55701400	Active TSS	Aorta	Aorta
31	chr15:55699600-55701400	Active TSS	Brain Cingulate Gyrus	brain
32	chr15:55699600-55701400	Active TSS	Fetal Intestine Small	intestine
33	chr15:55699600-55701400	Active TSS	Fetal Stomach	stomach
34	chr15:55699600-55701400	Active TSS	Right Atrium	heart
35	chr15:55699600-55701400	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr15:55699600-55701400	Active TSS	HMEC	breast
37	chr15:55699600-55701400	Active TSS	HSMM	muscle
38	chr15:55699600-55701400	Active TSS	NHLF	lung
39	chr15:55699600-55701600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:55699600-55701600	Active TSS	Pancreas	Pancrea
41	chr15:55699800-55701400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:55699800-55701400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:55699800-55701400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:55699800-55701400	Active TSS	Stomach Mucosa	stomach
45	chr15:55700000-55701400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr15:55700000-55701400	Active TSS	Fetal Kidney	kidney
47	chr15:55700000-55701800	Active TSS	Fetal Brain Female	brain
48	chr15:55700200-55701600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:55700200-55701600	Active TSS	HepG2	liver
50	chr15:55700400-55701400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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