Variant report

Variant	rs73259615
Chromosome Location	chr5:115148028-115148029
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115140820..115143368-chr5:115146750..115149183,3	MCF-7	breast:
2	chr5:115147173..115150653-chr5:115151450..115154733,4	K562	blood:

Variant related genes	Relation type
ENSG00000129596	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10058994	0.88[AMR][1000 genomes]
rs10477545	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10478261	0.97[AFR][1000 genomes]
rs10519429	0.88[AMR][1000 genomes]
rs11951965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11958544	0.83[AMR][1000 genomes]
rs11959754	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11960070	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968365	0.88[AMR][1000 genomes]
rs4920894	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60326315	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594908	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6865002	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265491	0.88[AMR][1000 genomes]
rs73267415	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780662	0.86[EUR][1000 genomes]
rs9326975	0.91[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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115131400-115149200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:115134200-115149600	Weak transcription	Ovary	ovary
3	chr5:115138200-115149200	Weak transcription	Aorta	Aorta
4	chr5:115138200-115149800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:115138400-115149800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:115138400-115150800	Weak transcription	Brain Substantia Nigra	brain
7	chr5:115138400-115151000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:115139200-115149400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:115139200-115149600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:115139200-115149600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:115139800-115149800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:115140400-115149600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:115142800-115149200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:115143000-115150400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:115143200-115149400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:115143200-115149600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:115143200-115149600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:115143800-115149400	Weak transcription	Brain Angular Gyrus	brain
19	chr5:115143800-115149800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:115144200-115148400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:115144800-115149600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:115145200-115149400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:115145600-115148800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:115145800-115149000	Weak transcription	Fetal Brain Male	brain
25	chr5:115146000-115149600	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:115146000-115150600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:115146200-115148200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:115146400-115148400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:115146400-115149000	Weak transcription	Brain Anterior Caudate	brain
30	chr5:115147000-115148200	Enhancers	Adipose Nuclei	Adipose
31	chr5:115147000-115148200	Weak transcription	Fetal Brain Female	brain
32	chr5:115147000-115149400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:115147200-115148400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:115147200-115148800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:115147200-115149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:115147400-115148800	Enhancers	HepG2	liver
37	chr5:115147400-115149000	Genic enhancers	Fetal Lung	lung
38	chr5:115147600-115148200	Weak transcription	Brain Germinal Matrix	brain
39	chr5:115148000-115148200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:115148000-115148400	Transcr. at gene 5' and 3'	Liver	Liver
41	chr5:115148000-115149800	Weak transcription	Placenta	Placenta

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