Variant report

Variant	rs73814875
Chromosome Location	chr4:53719379-53719380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53716501..53719430-chr4:53720319..53723628,3	K562	blood:
2	chr4:53717769..53720549-chr4:53725622..53727129,2	K562	blood:
3	chr4:53715750..53717744-chr4:53718273..53721166,2	MCF-7	breast:
4	chr4:53718830..53724031-chr4:53726765..53729736,6	MCF-7	breast:
5	chr4:53712700..53715179-chr4:53718213..53720143,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128045	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17082074	0.83[EUR][1000 genomes]
rs17630944	0.84[EUR][1000 genomes]
rs17698672	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3811781	0.95[ASN][1000 genomes]
rs41279517	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58577680	0.92[ASN][1000 genomes]
rs6554057	0.95[ASN][1000 genomes]
rs6817433	0.90[ASN][1000 genomes]
rs6818178	0.90[ASN][1000 genomes]
rs6833350	0.81[EUR][1000 genomes]
rs6848200	0.95[ASN][1000 genomes]
rs6855240	0.81[EUR][1000 genomes]
rs73814883	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73814886	0.92[ASN][1000 genomes]
rs7655781	0.90[ASN][1000 genomes]
rs7670068	0.92[ASN][1000 genomes]
rs7677726	0.81[EUR][1000 genomes]
rs7685816	0.87[ASN][1000 genomes]
rs7699960	0.87[ASN][1000 genomes]
rs881744	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1004086	chr4:53698581-53773183	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53709400-53721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:53715000-53720000	Weak transcription	Left Ventricle	heart
3	chr4:53715200-53721000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:53716000-53722200	Enhancers	Fetal Heart	heart
5	chr4:53716600-53721600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:53717600-53720800	Enhancers	NHDF-Ad	bronchial
7	chr4:53717800-53719800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:53718000-53720600	Enhancers	NHLF	lung
9	chr4:53718000-53723600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:53718600-53719400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:53718600-53719800	Enhancers	Ovary	ovary
12	chr4:53718600-53720600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:53718600-53720600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:53718600-53720600	Enhancers	HSMMtube	muscle
15	chr4:53718600-53720800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:53718800-53719400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:53718800-53719600	Enhancers	Brain Anterior Caudate	brain
18	chr4:53718800-53719600	Enhancers	Colon Smooth Muscle	Colon
19	chr4:53718800-53719600	Enhancers	Fetal Lung	lung
20	chr4:53718800-53720400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:53719000-53719400	Active TSS	Fetal Brain Male	brain
22	chr4:53719000-53719600	Enhancers	Fetal Kidney	kidney
23	chr4:53719000-53719600	Enhancers	NH-A	brain
24	chr4:53719000-53719800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:53719000-53719800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:53719000-53719800	Enhancers	Brain Hippocampus Middle	brain
27	chr4:53719000-53719800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:53719000-53719800	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:53719000-53719800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr4:53719000-53719800	Enhancers	Osteobl	bone
31	chr4:53719000-53720000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:53719000-53720000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:53719000-53720400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:53719000-53720400	Enhancers	HSMM	muscle
35	chr4:53719000-53720600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:53719000-53720600	Enhancers	NHEK	skin
37	chr4:53719000-53720800	Enhancers	HMEC	breast
38	chr4:53719000-53721400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:53719200-53719600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:53719200-53719600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:53719200-53720000	Enhancers	Primary hematopoietic stem cells	blood
42	chr4:53719200-53720000	Weak transcription	Aorta	Aorta
43	chr4:53719200-53720200	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:53719200-53720200	Enhancers	Stomach Smooth Muscle	stomach
45	chr4:53719200-53720400	Weak transcription	Right Ventricle	heart
46	chr4:53719200-53720600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:53719200-53720600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:53719200-53720600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:53719200-53721000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:53719200-53721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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