Variant report

Variant	rs73135334
Chromosome Location	chr5:92947983-92947984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:92933083..92935901-chr5:92946824..92949229,2	MCF-7	breast:
2	chr5:92943468..92945077-chr5:92945317..92948306,2	MCF-7	breast:
3	chr5:92945181..92949914-chr5:92955127..92958096,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251725	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1046217	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10514376	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17083278	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17083280	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56069221	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56259161	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57924239	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58143801	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58237393	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58919600	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59544418	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60553989	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60827958	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61110137	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61429325	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6556828	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6556829	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6884138	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6892853	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73135354	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135367	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73135371	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73135373	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135374	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73135376	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73135377	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7704972	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7710106	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7712388	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7721168	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7721509	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7731223	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7736624	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr5:92944000-92951200	Weak transcription	Hela-S3	cervix
2	chr5:92947200-92949000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:92947200-92949400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:92947400-92948000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr5:92947400-92948000	Bivalent Enhancer	Fetal Heart	heart
6	chr5:92947400-92948000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
7	chr5:92947400-92948000	Bivalent Enhancer	HUVEC	blood vessel
8	chr5:92947400-92948200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr5:92947400-92948200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr5:92947400-92948200	Flanking Bivalent TSS/Enh	NH-A	brain
11	chr5:92947400-92948600	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr5:92947400-92948600	Bivalent Enhancer	Fetal Stomach	stomach
13	chr5:92947400-92948600	Bivalent/Poised TSS	A549	lung
14	chr5:92947400-92948800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:92947400-92949000	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr5:92947600-92948000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:92947600-92948000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:92947600-92948000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:92947600-92948000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
20	chr5:92947600-92948000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:92947600-92948000	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr5:92947600-92948000	Bivalent Enhancer	Fetal Lung	lung
23	chr5:92947600-92948000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr5:92947600-92948000	Bivalent Enhancer	Lung	lung
25	chr5:92947600-92948000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr5:92947600-92948000	Bivalent Enhancer	Psoas Muscle	Psoas
27	chr5:92947600-92948200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr5:92947600-92948200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:92947600-92948200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr5:92947600-92948200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:92947600-92948200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr5:92947600-92948200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:92947600-92948200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:92947600-92948200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
35	chr5:92947600-92948200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:92947600-92948200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
37	chr5:92947600-92948200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr5:92947600-92948200	Enhancers	Ovary	ovary
39	chr5:92947600-92948200	Enhancers	Pancreas	Pancrea
40	chr5:92947600-92948200	Bivalent/Poised TSS	Right Atrium	heart
41	chr5:92947600-92948200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr5:92947600-92948400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:92947600-92948400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:92947600-92948400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
45	chr5:92947600-92948400	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr5:92947600-92948600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:92947600-92948600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
48	chr5:92947600-92948600	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr5:92947600-92948600	Bivalent/Poised TSS	HSMM	muscle
50	chr5:92947600-92949000	Bivalent Enhancer	Liver	Liver

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