Variant report

Variant	rs72942472
Chromosome Location	chr3:112952282-112952283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112950520..112952808-chr3:112954208..112956518,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72942473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS 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	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112937000-112954800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:112937200-112953400	Weak transcription	Right Ventricle	heart
4	chr3:112940600-112953400	Weak transcription	Stomach Mucosa	stomach
5	chr3:112943600-112960600	Weak transcription	Fetal Thymus	thymus
6	chr3:112946400-112953400	Weak transcription	Gastric	stomach
7	chr3:112947000-112955600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:112948400-112953400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:112949200-112953600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:112949800-112954200	Enhancers	HMEC	breast
11	chr3:112949800-112954600	Enhancers	NHEK	skin
12	chr3:112950000-112953400	Enhancers	Colon Smooth Muscle	Colon
13	chr3:112950000-112953800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:112950000-112953800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr3:112950200-112953400	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:112950200-112954200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:112950200-112954400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:112950400-112952600	Enhancers	Ovary	ovary
19	chr3:112950400-112953000	Enhancers	Fetal Brain Male	brain
20	chr3:112950400-112953200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr3:112950400-112953800	Genic enhancers	Fetal Stomach	stomach
22	chr3:112950400-112954000	Genic enhancers	Fetal Muscle Leg	muscle
23	chr3:112950400-112954400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:112950600-112952600	Enhancers	Brain Germinal Matrix	brain
25	chr3:112950600-112952800	Enhancers	Esophagus	oesophagus
26	chr3:112950600-112953800	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr3:112950600-112954000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:112950800-112952400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:112951000-112952400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:112951000-112952800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:112951000-112952800	Weak transcription	Brain Substantia Nigra	brain
32	chr3:112951000-112953200	Weak transcription	Right Atrium	heart
33	chr3:112951000-112953200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:112951000-112953400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:112951000-112953400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:112951000-112953400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:112951000-112953400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:112951000-112953400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:112951000-112954200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:112951000-112954400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:112951000-112958800	Weak transcription	Fetal Kidney	kidney
42	chr3:112951200-112952400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:112951200-112952600	Weak transcription	Lung	lung
44	chr3:112951200-112952800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:112951200-112952800	Weak transcription	Brain Angular Gyrus	brain
46	chr3:112951200-112953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:112951200-112953400	Weak transcription	Adipose Nuclei	Adipose
48	chr3:112951200-112953400	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:112951200-112953400	Weak transcription	Left Ventricle	heart
50	chr3:112951200-112953400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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