Variant report

Variant	rs73857318
Chromosome Location	chr3:112720805-112720806
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112719444..112722309-chr3:112722790..112725279,3	MCF-7	breast:
2	chr3:112712440..112714987-chr3:112718253..112721198,2	K562	blood:
3	chr3:112708475..112712814-chr3:112716672..112721404,6	MCF-7	breast:
4	chr3:112715780..112719383-chr3:112720477..112724820,4	MCF-7	breast:
5	chr3:112716379..112718030-chr3:112718654..112721111,2	K562	blood:
6	chr3:112719705..112722354-chr3:112732625..112735054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272844	Chromatin interaction
ENSG00000163607	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1488192	1.00[AMR][1000 genomes]
rs1844081	1.00[AMR][1000 genomes]
rs1844082	1.00[AMR][1000 genomes]
rs1844083	1.00[AMR][1000 genomes]
rs57252468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57986760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73857308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73857312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73857316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv1843165	chr3:112628205-112740145	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112710400-112721200	Weak transcription	Lung	lung
2	chr3:112710400-112721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:112710400-112721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:112710400-112724200	Weak transcription	Small Intestine	intestine
5	chr3:112710400-112737400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:112710600-112721000	Weak transcription	Pancreas	Pancrea
7	chr3:112710600-112721000	Weak transcription	Right Ventricle	heart
8	chr3:112710600-112721000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:112710600-112721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:112710600-112721200	Weak transcription	Ovary	ovary
11	chr3:112710600-112721400	Weak transcription	HSMMtube	muscle
12	chr3:112710600-112723800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:112710600-112725000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:112710800-112721400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:112711400-112721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:112711400-112721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:112711400-112721200	Weak transcription	Psoas Muscle	Psoas
18	chr3:112711400-112721200	Weak transcription	Spleen	Spleen
19	chr3:112711400-112736600	Weak transcription	Stomach Mucosa	stomach
20	chr3:112711600-112721000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:112711600-112721000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:112711600-112721200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:112711800-112721200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:112711800-112724000	Weak transcription	NHLF	lung
25	chr3:112712000-112721200	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:112712000-112721400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:112712200-112736800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:112712400-112736600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:112712800-112721200	Weak transcription	Aorta	Aorta
30	chr3:112712800-112721400	Weak transcription	Fetal Brain Male	brain
31	chr3:112712800-112736600	Weak transcription	Fetal Heart	heart
32	chr3:112714400-112721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:112714400-112721600	Strong transcription	Fetal Thymus	thymus
34	chr3:112714400-112736800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:112714600-112721200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:112715000-112721200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:112715000-112735800	Strong transcription	Primary B cells from cord blood	blood
38	chr3:112715200-112736000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr3:112715600-112721200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:112715600-112725800	Strong transcription	Dnd41	blood
41	chr3:112715600-112734600	Strong transcription	Liver	Liver
42	chr3:112715600-112736600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:112715600-112736600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:112715800-112721000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:112715800-112735800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr3:112715800-112736000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:112715800-112736200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:112715800-112736800	Strong transcription	Placenta	Placenta
49	chr3:112716000-112736000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr3:112716000-112736600	Strong transcription	Primary monocytes fromperipheralblood	blood

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