Variant report

Variant	rs55771309
Chromosome Location	chr5:112299915-112299916
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112293295..112296045-chr5:112298149..112301329,3	MCF-7	breast:
2	chr5:112253331..112253837-chr5:112299324..112300281,2	MCF-7	breast:
3	chr5:112257600..112258307-chr5:112299405..112300027,2	MCF-7	breast:
4	chr5:112298220..112301576-chr5:112303525..112306248,4	K562	blood:
5	chr5:112299891..112302551-chr5:112304057..112307148,4	K562	blood:
6	chr5:112257169..112258035-chr5:112299308..112300302,2	K562	blood:
7	chr5:112297580..112299922-chr5:112309564..112312558,3	K562	blood:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17135193	0.81[EUR][1000 genomes]
rs17310536	0.81[EUR][1000 genomes]
rs17311019	0.81[EUR][1000 genomes]
rs17311096	0.81[EUR][1000 genomes]
rs17360289	1.00[AFR][1000 genomes]
rs17369211	0.81[EUR][1000 genomes]
rs17369487	0.81[EUR][1000 genomes]
rs17370550	0.87[EUR][1000 genomes]
rs17371015	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1833560	0.81[EUR][1000 genomes]
rs2229997	1.00[AFR][1000 genomes]
rs55798475	0.81[EUR][1000 genomes]
rs56155803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320268	1.00[AFR][1000 genomes]
rs56321569	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6862066	1.00[AFR][1000 genomes]
rs6864647	0.94[EUR][1000 genomes]
rs6879416	1.00[AFR][1000 genomes]
rs6879615	1.00[AFR][1000 genomes]
rs6882720	1.00[AFR][1000 genomes]
rs7730441	0.81[EUR][1000 genomes]
rs7734810	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
2	chr5:112294800-112304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:112295200-112304400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:112297000-112304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:112298200-112311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:112298600-112300200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:112298600-112300200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:112298800-112300200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:112298800-112300200	Enhancers	Osteobl	bone
10	chr5:112298800-112300400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:112298800-112300400	Enhancers	K562	blood
12	chr5:112299000-112300000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:112299000-112300000	Enhancers	HSMM	muscle
14	chr5:112299000-112300000	Enhancers	NH-A	brain
15	chr5:112299000-112300000	Enhancers	NHEK	skin
16	chr5:112299000-112300200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:112299000-112300200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:112299000-112300200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:112299000-112300200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:112299000-112300200	Enhancers	A549	lung
21	chr5:112299000-112300200	Enhancers	Hela-S3	cervix
22	chr5:112299000-112300200	Enhancers	NHDF-Ad	bronchial
23	chr5:112299000-112300400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:112299000-112300400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:112299000-112300400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:112299000-112300400	Enhancers	Placenta	Placenta
27	chr5:112299200-112300000	Enhancers	Left Ventricle	heart
28	chr5:112299200-112300000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr5:112299400-112300200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:112299400-112300200	Enhancers	Fetal Heart	heart
31	chr5:112299400-112300200	Enhancers	HMEC	breast
32	chr5:112299600-112300000	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:112299600-112300000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr5:112299600-112300000	Flanking Active TSS	GM12878-XiMat	blood
35	chr5:112299600-112300000	Enhancers	HepG2	liver
36	chr5:112299600-112300000	Enhancers	HSMMtube	muscle
37	chr5:112299600-112300200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:112299600-112300200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr5:112299600-112300200	Enhancers	Stomach Smooth Muscle	stomach
40	chr5:112299600-112300200	Enhancers	HUVEC	blood vessel
41	chr5:112299600-112300200	Enhancers	NHLF	lung
42	chr5:112299600-112300400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:112299800-112300200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112299800-112300400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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