Variant report

Variant	rs60515525
Chromosome Location	chr3:112886705-112886706
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	GATA2	chr3:112885243-112887450	SH-SY5Y	brain:	n/a	chr3:112887115-112887122 chr3:112887115-112887122 chr3:112887115-112887122
2	ZNF263	chr3:112885377-112887604	HEK293-T-REx	kidney:	n/a	n/a
3	GATA3	chr3:112885491-112887201	SH-SY5Y	brain:	n/a	chr3:112887115-112887122 chr3:112887115-112887122 chr3:112887115-112887122
4	EP300	chr3:112884726-112888406	SK-N-SH	brain:	n/a	chr3:112887213-112887226 chr3:112887094-112887108
5	KAP1	chr3:112885025-112887729	HEK293	kidney:	n/a	chr3:112885895-112885903

Variant related genes	Relation type
ENSG00000243795	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs57329048	1.00[AMR][1000 genomes]
rs57703274	1.00[AMR][1000 genomes]
rs57958286	1.00[AMR][1000 genomes]
rs58388252	1.00[AMR][1000 genomes]
rs59597612	1.00[AMR][1000 genomes]
rs59599263	1.00[AMR][1000 genomes]
rs60691321	1.00[AMR][1000 genomes]
rs61078134	1.00[AMR][1000 genomes]
rs61183543	1.00[AMR][1000 genomes]
rs61298854	1.00[AMR][1000 genomes]
rs6784463	1.00[AMR][1000 genomes]
rs6788565	1.00[AMR][1000 genomes]
rs6804726	1.00[AMR][1000 genomes]
rs73853713	1.00[AMR][1000 genomes]
rs73853715	1.00[AMR][1000 genomes]
rs73854002	1.00[AMR][1000 genomes]
rs73857306	1.00[AMR][1000 genomes]
rs73857313	1.00[AMR][1000 genomes]
rs73857314	1.00[AMR][1000 genomes]
rs73857323	1.00[AMR][1000 genomes]
rs73857324	1.00[AMR][1000 genomes]
rs73857325	1.00[AMR][1000 genomes]
rs7630531	1.00[AMR][1000 genomes]
rs7643297	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv517636	chr3:112878536-112893640	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112883800-112887800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112883800-112889400	Enhancers	Fetal Muscle Leg	muscle
3	chr3:112884000-112887000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:112884000-112887400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:112884000-112889200	Enhancers	Fetal Stomach	stomach
6	chr3:112884000-112889600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:112884000-112889600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:112884200-112887200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr3:112884200-112888800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:112884400-112887800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:112884400-112889400	Enhancers	Fetal Lung	lung
12	chr3:112884800-112886800	Enhancers	Adipose Nuclei	Adipose
13	chr3:112884800-112888000	Enhancers	Fetal Intestine Large	intestine
14	chr3:112885000-112887600	Enhancers	Fetal Intestine Small	intestine
15	chr3:112885000-112889200	Enhancers	Fetal Kidney	kidney
16	chr3:112885200-112887000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:112885200-112889000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr3:112885400-112888000	Weak transcription	Fetal Thymus	thymus
19	chr3:112885400-112889000	Enhancers	Brain Germinal Matrix	brain
20	chr3:112885400-112889000	Enhancers	Fetal Muscle Trunk	muscle
21	chr3:112885600-112886800	Enhancers	Brain Anterior Caudate	brain
22	chr3:112885600-112886800	Enhancers	Stomach Mucosa	stomach
23	chr3:112886000-112888000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:112886200-112888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:112886200-112888800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:112886200-112888800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:112886400-112886800	Weak transcription	Brain Substantia Nigra	brain
28	chr3:112886400-112886800	Enhancers	NHDF-Ad	bronchial
29	chr3:112886400-112887000	Weak transcription	Fetal Brain Female	brain
30	chr3:112886400-112887000	Weak transcription	Right Atrium	heart
31	chr3:112886400-112887000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:112886400-112887200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:112886400-112887200	Enhancers	Colon Smooth Muscle	Colon
34	chr3:112886400-112887200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:112886400-112887400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:112886400-112887400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:112886400-112887400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:112886400-112887400	Weak transcription	Aorta	Aorta
39	chr3:112886400-112887800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:112886400-112888400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:112886400-112888800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:112886400-112888800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:112886400-112889200	Enhancers	Rectal Smooth Muscle	rectum
44	chr3:112886400-112893600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:112886400-112893800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:112886400-112893800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:112886600-112887200	Enhancers	HSMMtube	muscle
48	chr3:112886600-112887600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:112886600-112888200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:112886600-112888400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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