Variant report

Variant	rs73487044
Chromosome Location	chr13:48850193-48850194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48839695..48841819-chr13:48848879..48850902,2	MCF-7	breast:
2	chr13:48848862..48851503-chr13:48870489..48872026,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2006126	0.82[AMR][1000 genomes]
rs56835880	1.00[ASN][1000 genomes]
rs56955865	0.87[ASN][1000 genomes]
rs60372626	0.87[ASN][1000 genomes]
rs61683759	1.00[ASN][1000 genomes]
rs73485079	0.87[ASN][1000 genomes]
rs73487048	1.00[ASN][1000 genomes]
rs73487051	1.00[ASN][1000 genomes]
rs73487055	1.00[ASN][1000 genomes]
rs73487056	1.00[ASN][1000 genomes]
rs73487058	1.00[ASN][1000 genomes]
rs7983535	1.00[ASN][1000 genomes]
rs7986777	1.00[ASN][1000 genomes]
rs7999809	0.87[ASN][1000 genomes]
rs9332285	0.87[ASN][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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48833800-48851600	Weak transcription	Fetal Heart	heart
2	chr13:48837800-48853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:48838000-48852800	Weak transcription	HUVEC	blood vessel
5	chr13:48839800-48850200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:48840000-48851600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:48841800-48852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:48841800-48853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:48843800-48850400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:48844000-48850600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:48844200-48850600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:48844200-48853000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr13:48844400-48850200	Weak transcription	Fetal Stomach	stomach
14	chr13:48844400-48850200	Weak transcription	Ovary	ovary
15	chr13:48844400-48851400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:48844400-48851600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:48844400-48853000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:48844400-48853000	Weak transcription	Brain Anterior Caudate	brain
19	chr13:48844400-48853000	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:48844400-48857600	Weak transcription	HSMMtube	muscle
21	chr13:48844400-48877200	Weak transcription	Aorta	Aorta
22	chr13:48845200-48850400	Weak transcription	Fetal Thymus	thymus
23	chr13:48846200-48851200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:48847800-48853000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:48848000-48853000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr13:48848000-48853000	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:48848000-48853000	Weak transcription	Brain Substantia Nigra	brain
28	chr13:48849600-48850200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:48849800-48850200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:48850000-48850200	Enhancers	Left Ventricle	heart

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