Variant report

Variant	rs1975009
Chromosome Location	chr5:106755145-106755146
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106748728..106750228-chr5:106752958..106755259,2	K562	blood:
2	chr5:106750740..106753168-chr5:106754133..106755799,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10085055	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11242636	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11956440	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13178242	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13182976	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28683545	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34366978	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34583348	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35021422	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3756544	0.80[ASN][1000 genomes]
rs3776792	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3797516	0.81[ASN][1000 genomes]
rs3797517	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3797521	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3797527	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822565	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3873122	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3873123	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58696640	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66505151	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6868410	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72785829	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7703776	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106738800-106761600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:106739000-106758200	Weak transcription	Left Ventricle	heart
3	chr5:106739600-106762600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:106741000-106758200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:106745600-106758400	Weak transcription	Right Ventricle	heart
6	chr5:106745600-106758400	Weak transcription	HMEC	breast
7	chr5:106750000-106758200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:106750000-106758400	Weak transcription	Aorta	Aorta
9	chr5:106751400-106758000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:106751400-106759400	Enhancers	A549	lung
11	chr5:106751600-106764400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:106751800-106758200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:106751800-106765800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:106751800-106767800	Weak transcription	Stomach Mucosa	stomach
15	chr5:106752000-106761600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:106752400-106758200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:106752400-106758200	Weak transcription	HSMM	muscle
18	chr5:106752600-106761600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:106753000-106757600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:106753400-106764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:106753800-106755600	Enhancers	Fetal Heart	heart
22	chr5:106753800-106756000	Enhancers	HUVEC	blood vessel
23	chr5:106753800-106758400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:106754000-106767600	Weak transcription	Fetal Stomach	stomach
25	chr5:106754200-106755400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:106754200-106759200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:106754200-106763800	Weak transcription	GM12878-XiMat	blood
28	chr5:106754400-106761200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:106754600-106757600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:106754600-106758200	Weak transcription	Fetal Kidney	kidney
31	chr5:106754800-106762200	Weak transcription	Fetal Lung	lung
32	chr5:106755000-106758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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