Variant report

Variant	rs4145650
Chromosome Location	chr5:112296441-112296442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112296171..112299064-chr5:112312877..112315865,3	K562	blood:
2	chr5:112295383..112297610-chr5:112302677..112305586,2	K562	blood:
3	chr5:112292348..112294065-chr5:112295595..112297511,2	MCF-7	breast:
4	chr5:112292808..112297954-chr5:112311731..112314309,4	MCF-7	breast:
5	chr5:112294258..112297172-chr5:112310787..112314038,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10064080	0.94[EUR][1000 genomes]
rs10515450	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10515452	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12187307	0.82[YRI][hapmap]
rs12188113	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13354064	0.95[EUR][1000 genomes]
rs13360667	0.99[EUR][1000 genomes]
rs17553240	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28635838	0.92[EUR][1000 genomes]
rs28789211	0.94[EUR][1000 genomes]
rs3962814	0.96[EUR][1000 genomes]
rs56364425	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728347	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs73227370	0.99[EUR][1000 genomes]
rs73789251	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73789266	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112291600-112297600	Enhancers	HepG2	liver
2	chr5:112293200-112297000	Enhancers	NHDF-Ad	bronchial
3	chr5:112293200-112297000	Enhancers	NHLF	lung
4	chr5:112293400-112297200	Enhancers	Fetal Muscle Leg	muscle
5	chr5:112293400-112297200	Enhancers	Fetal Stomach	stomach
6	chr5:112293800-112297000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:112293800-112297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112293800-112297200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:112293800-112297200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:112293800-112297600	Enhancers	K562	blood
11	chr5:112293800-112297800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
13	chr5:112294200-112296800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:112294400-112298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:112294600-112299400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:112294800-112296600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:112294800-112297000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:112294800-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:112294800-112299400	Weak transcription	Fetal Heart	heart
20	chr5:112294800-112304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:112295000-112296800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:112295000-112297000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:112295000-112297200	Enhancers	Psoas Muscle	Psoas
24	chr5:112295200-112297000	Enhancers	Osteobl	bone
25	chr5:112295200-112297200	Enhancers	Brain Germinal Matrix	brain
26	chr5:112295200-112297200	Enhancers	NH-A	brain
27	chr5:112295200-112299000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:112295200-112299000	Weak transcription	Adipose Nuclei	Adipose
29	chr5:112295200-112299600	Enhancers	GM12878-XiMat	blood
30	chr5:112295200-112304400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:112295600-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:112295800-112296800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:112295800-112296800	Enhancers	Hela-S3	cervix
34	chr5:112295800-112297200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:112295800-112297200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:112295800-112297200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:112295800-112299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:112295800-112299000	Weak transcription	Placenta	Placenta
39	chr5:112296000-112299000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:112296000-112299400	Weak transcription	HMEC	breast
41	chr5:112296000-112299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:112296200-112297000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:112296200-112297600	Enhancers	A549	lung
44	chr5:112296200-112299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:112296200-112299000	Weak transcription	NHEK	skin
46	chr5:112296400-112299000	Weak transcription	HSMM	muscle
47	chr5:112296400-112299600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:112296400-112299600	Weak transcription	HSMMtube	muscle
49	chr5:112296400-112299600	Weak transcription	HUVEC	blood vessel

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