Variant report

Variant	rs72867312
Chromosome Location	chr3:42864667-42864668
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42863648..42866062-chr3:42870307..42872848,2	K562	blood:
2	chr3:42825664..42827247-chr3:42863922..42866111,2	MCF-7	breast:
3	chr3:42863918..42866711-chr3:42866825..42870903,9	MCF-7	breast:
4	chr3:42854558..42863000-chr3:42863307..42874321,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144648	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17074630	1.00[AMR][1000 genomes]
rs17074830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17074832	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56734964	1.00[AMR][1000 genomes]
rs58771312	1.00[AMR][1000 genomes]
rs59266989	1.00[AMR][1000 genomes]
rs60549782	1.00[AMR][1000 genomes]
rs72867329	1.00[AMR][1000 genomes]
rs72869041	1.00[AMR][1000 genomes]
rs72869048	1.00[AMR][1000 genomes]
rs72869053	1.00[AMR][1000 genomes]
rs72869076	1.00[AMR][1000 genomes]
rs72870823	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847016	chr3:42855765-42880490	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42857000-42869800	Weak transcription	Colonic Mucosa	Colon
2	chr3:42861600-42873000	Weak transcription	Esophagus	oesophagus
3	chr3:42861600-42885400	Weak transcription	Pancreas	Pancrea
4	chr3:42861800-42865000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:42861800-42868400	Weak transcription	Liver	Liver
6	chr3:42861800-42872600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:42862400-42872800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:42863000-42870200	Weak transcription	Hela-S3	cervix
9	chr3:42863000-42871000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:42864000-42866200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:42864200-42864800	Genic enhancers	Placenta	Placenta
12	chr3:42864200-42865400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:42864200-42865600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:42864200-42865600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:42864400-42865000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:42864400-42865200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:42864400-42865200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:42864400-42865200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:42864400-42865400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:42864400-42865400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:42864400-42865400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:42864400-42865600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:42864400-42865600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:42864400-42865600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr3:42864600-42864800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:42864600-42864800	Enhancers	K562	blood
27	chr3:42864600-42865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:42864600-42865000	Flanking Active TSS	HepG2	liver
29	chr3:42864600-42865000	Flanking Active TSS	HMEC	breast
30	chr3:42864600-42865200	Enhancers	Stomach Mucosa	stomach
31	chr3:42864600-42865400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:42864600-42865600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr3:42864600-42865600	Flanking Active TSS	NHEK	skin

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