Variant report

Variant	rs56189742
Chromosome Location	chr3:154822662-154822663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:154822115..154823950-chr3:154826067..154827836,2	K562	blood:
2	chr3:154807454..154810340-chr3:154818810..154822797,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10513468	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1370031	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17442808	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4273335	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273336	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279988	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62279989	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62279990	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6763852	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154800200-154824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:154800400-154826800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:154807600-154823400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:154808200-154827200	Weak transcription	Fetal Intestine Large	intestine
5	chr3:154808800-154825400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:154815600-154827400	Weak transcription	Liver	Liver
7	chr3:154815800-154834000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:154818200-154827400	Genic enhancers	Dnd41	blood
9	chr3:154818800-154827000	Weak transcription	Fetal Thymus	thymus
10	chr3:154819400-154844400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:154819600-154827000	Weak transcription	Fetal Intestine Small	intestine
12	chr3:154819600-154828400	Weak transcription	Fetal Kidney	kidney
13	chr3:154819800-154825400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:154819800-154826400	Weak transcription	Thymus	Thymus
15	chr3:154820400-154825400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:154820600-154834800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:154820600-154836600	Weak transcription	NHLF	lung
18	chr3:154820800-154823200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:154820800-154823400	Weak transcription	NHDF-Ad	bronchial
20	chr3:154820800-154826600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:154821200-154826600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:154821200-154829000	Weak transcription	HSMM	muscle
23	chr3:154821400-154823800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:154821800-154824000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:154821800-154824800	Enhancers	Fetal Lung	lung
26	chr3:154821800-154825600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:154822400-154822800	Enhancers	Adipose Nuclei	Adipose
28	chr3:154822400-154822800	Enhancers	HSMMtube	muscle

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