Variant report

Variant	rs72733553
Chromosome Location	chr14:69436917-69436918
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69420750..69423419-chr14:69434981..69437135,2	K562	blood:
2	chr14:69431359..69433978-chr14:69434741..69437243,2	K562	blood:
3	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258531	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11846184	1.00[ASN][1000 genomes]
rs12888526	1.00[ASN][1000 genomes]
rs17106508	1.00[ASN][1000 genomes]
rs17106536	1.00[ASN][1000 genomes]
rs17106678	1.00[ASN][1000 genomes]
rs2013734	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61180170	1.00[ASN][1000 genomes]
rs7152086	1.00[ASN][1000 genomes]
rs72733556	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284973	1.00[ASN][1000 genomes]
rs73284974	1.00[ASN][1000 genomes]
rs8009211	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72733553	ACTN1-AS1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
2	chr14:69420200-69437200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:69420200-69441200	Genic enhancers	NHEK	skin
4	chr14:69420600-69441600	Genic enhancers	NH-A	brain
5	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:69427600-69437600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:69427600-69437600	Enhancers	Left Ventricle	heart
8	chr14:69428400-69437200	Enhancers	Adipose Nuclei	Adipose
9	chr14:69428400-69437200	Genic enhancers	NHLF	lung
10	chr14:69428400-69442200	Genic enhancers	Fetal Stomach	stomach
11	chr14:69428600-69439800	Genic enhancers	Fetal Intestine Small	intestine
12	chr14:69428600-69443400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:69429200-69439600	Enhancers	Fetal Thymus	thymus
14	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
15	chr14:69429800-69441400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:69429800-69442400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:69430000-69437800	Enhancers	Fetal Intestine Large	intestine
18	chr14:69430000-69438000	Enhancers	Liver	Liver
19	chr14:69430000-69440400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:69430000-69441600	Genic enhancers	HSMM	muscle
21	chr14:69430200-69438800	Enhancers	Fetal Heart	heart
22	chr14:69430600-69437800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:69430800-69437600	Enhancers	Right Atrium	heart
24	chr14:69430800-69438200	Enhancers	Pancreas	Pancrea
25	chr14:69430800-69439000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:69431000-69438200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr14:69431600-69437400	Enhancers	Colonic Mucosa	Colon
28	chr14:69431800-69438400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:69431800-69439200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:69431800-69444000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr14:69432000-69442400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:69432400-69437000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:69432400-69437600	Weak transcription	Hela-S3	cervix
34	chr14:69432400-69441400	Genic enhancers	HepG2	liver
35	chr14:69432600-69438200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:69432600-69442200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:69432600-69443000	Weak transcription	Brain Substantia Nigra	brain
38	chr14:69433000-69437600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr14:69433200-69437600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:69433200-69437600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:69433200-69438800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:69433200-69438800	Enhancers	Spleen	Spleen
43	chr14:69433200-69442000	Genic enhancers	Muscle Satellite Cultured Cells	--
44	chr14:69433400-69437600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:69433800-69437800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr14:69434000-69437000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr14:69434200-69437600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:69434200-69441600	Weak transcription	Ovary	ovary
49	chr14:69434400-69437200	Enhancers	Fetal Muscle Leg	muscle
50	chr14:69434400-69437400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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