Variant report

Variant	rs73143409
Chromosome Location	chr4:53985165-53985166
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	chr4:53978972..53981461-chr4:53984171..53987382,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11932451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934255	1.00[EUR][1000 genomes]
rs17082361	1.00[EUR][1000 genomes]
rs17082514	1.00[EUR][1000 genomes]
rs17082527	1.00[EUR][1000 genomes]
rs17082568	1.00[EUR][1000 genomes]
rs17082586	1.00[EUR][1000 genomes]
rs28824263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56720104	1.00[EUR][1000 genomes]
rs56919722	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57159957	1.00[EUR][1000 genomes]
rs57480314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59315527	1.00[EUR][1000 genomes]
rs59382030	1.00[EUR][1000 genomes]
rs59688893	1.00[EUR][1000 genomes]
rs60298480	1.00[EUR][1000 genomes]
rs60960188	1.00[EUR][1000 genomes]
rs61451961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73141435	1.00[EUR][1000 genomes]
rs73141465	1.00[EUR][1000 genomes]
rs73141473	1.00[EUR][1000 genomes]
rs73141488	1.00[EUR][1000 genomes]
rs73141489	1.00[EUR][1000 genomes]
rs73141493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73141502	1.00[EUR][1000 genomes]
rs73143406	1.00[EUR][1000 genomes]
rs73143437	1.00[EUR][1000 genomes]
rs73143440	1.00[EUR][1000 genomes]
rs73143445	1.00[EUR][1000 genomes]
rs73143454	1.00[EUR][1000 genomes]
rs73143469	1.00[EUR][1000 genomes]
rs73143473	1.00[EUR][1000 genomes]
rs73143478	1.00[EUR][1000 genomes]
rs73143501	1.00[EUR][1000 genomes]
rs73145365	1.00[EUR][1000 genomes]
rs73145375	1.00[EUR][1000 genomes]
rs73147304	1.00[EUR][1000 genomes]
rs73147395	1.00[EUR][1000 genomes]
rs73147399	1.00[EUR][1000 genomes]
rs73147402	1.00[EUR][1000 genomes]
rs73149158	1.00[EUR][1000 genomes]
rs73149226	1.00[EUR][1000 genomes]
rs73149233	1.00[EUR][1000 genomes]
rs73149238	1.00[EUR][1000 genomes]
rs73149250	1.00[EUR][1000 genomes]
rs73149260	1.00[EUR][1000 genomes]
rs73149274	1.00[EUR][1000 genomes]
rs73151252	1.00[EUR][1000 genomes]
rs7660092	1.00[EUR][1000 genomes]
rs7661029	1.00[EUR][1000 genomes]
rs7676883	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53965800-53986000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:53978800-54008000	Weak transcription	Primary T cells from cord blood	blood
3	chr4:53980000-53985400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:53980000-53985800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:53980000-53985800	Weak transcription	NHLF	lung
6	chr4:53980000-53986800	Weak transcription	Aorta	Aorta
7	chr4:53980400-53985800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:53980400-53993000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:53980800-53985600	Weak transcription	NHDF-Ad	bronchial
10	chr4:53981200-53985800	Weak transcription	Fetal Lung	lung
11	chr4:53981800-53985600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:53981800-53986000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:53982200-53989600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:53983200-53987400	Weak transcription	Ovary	ovary
15	chr4:53983600-53985600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:53983600-53985600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:53983600-53985600	Weak transcription	Osteobl	bone
18	chr4:53983600-53985800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:53983600-53985800	Weak transcription	HSMMtube	muscle
20	chr4:53983600-53985800	Weak transcription	NHEK	skin
21	chr4:53983800-53985200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:53983800-53985200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:53983800-53985600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:53983800-53985600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:53983800-53985600	Weak transcription	Fetal Intestine Large	intestine
26	chr4:53983800-53985800	Weak transcription	HMEC	breast
27	chr4:53984000-53985600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:53984000-53985800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:53984600-53986600	Enhancers	Fetal Heart	heart
30	chr4:53984600-53986800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:53984800-53986400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:53984800-53989600	Enhancers	Brain Substantia Nigra	brain
33	chr4:53985000-53985200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:53985000-53985200	Enhancers	Stomach Mucosa	stomach
35	chr4:53985000-53986000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:53985000-53986000	Weak transcription	Brain Anterior Caudate	brain

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