Variant report

Variant	rs73248657
Chromosome Location	chr4:53459041-53459042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13116744	1.00[AFR][1000 genomes]
rs2244291	1.00[AFR][1000 genomes]
rs73248668	1.00[ASN][1000 genomes]
rs73248683	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv482581	chr4:53310749-53480710	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
4	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
6	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
7	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
8	esv2754049	chr4:53454272-53539672	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53439000-53461000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:53449400-53459600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:53451800-53462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:53451800-53462800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:53451800-53501400	Weak transcription	Small Intestine	intestine
6	chr4:53452400-53459400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:53452400-53460800	Weak transcription	Fetal Lung	lung
8	chr4:53452400-53461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:53452400-53462600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:53452600-53460600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:53452600-53462800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:53453000-53485400	Weak transcription	Psoas Muscle	Psoas
13	chr4:53453800-53460000	Weak transcription	Fetal Brain Female	brain
14	chr4:53453800-53462200	Weak transcription	Fetal Brain Male	brain
15	chr4:53453800-53462200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:53454000-53467800	Weak transcription	Brain Substantia Nigra	brain
17	chr4:53454400-53460400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:53454400-53461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:53454400-53462800	Weak transcription	HepG2	liver
20	chr4:53454600-53461000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:53454800-53459400	Weak transcription	Adipose Nuclei	Adipose
22	chr4:53454800-53461000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:53454800-53462400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:53454800-53462600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:53454800-53462800	Weak transcription	Lung	lung
26	chr4:53454800-53485400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:53455200-53459200	Weak transcription	Gastric	stomach
28	chr4:53455200-53461000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:53455200-53461000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:53455200-53461200	Weak transcription	Ovary	ovary
31	chr4:53455200-53462600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:53455200-53462600	Weak transcription	Esophagus	oesophagus
33	chr4:53455400-53459200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:53455400-53461000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:53455400-53461000	Weak transcription	NHLF	lung
36	chr4:53455400-53462600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:53455400-53462600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:53455400-53473400	Weak transcription	Fetal Thymus	thymus
39	chr4:53455600-53459200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:53455600-53462400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:53455600-53462600	Weak transcription	Aorta	Aorta
42	chr4:53455600-53462600	Weak transcription	Brain Germinal Matrix	brain
43	chr4:53455600-53462800	Weak transcription	Primary T cells from cord blood	blood
44	chr4:53455600-53462800	Weak transcription	Brain Anterior Caudate	brain
45	chr4:53455800-53459600	Weak transcription	Right Ventricle	heart
46	chr4:53455800-53460600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:53455800-53460800	Weak transcription	HMEC	breast
48	chr4:53455800-53461200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:53455800-53461400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:53455800-53463200	Weak transcription	NHEK	skin

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