Variant report

Variant	rs28589653
Chromosome Location	chr4:144207790-144207791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12643013	0.81[ASN][1000 genomes]
rs13118846	0.81[ASN][1000 genomes]
rs13136521	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13137362	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1532981	0.81[ASN][1000 genomes]
rs17686361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846235	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537153	0.80[AMR][1000 genomes]
rs6840603	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7655782	0.81[ASN][1000 genomes]
rs7690761	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv880177	chr4:144174773-144214082	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144204800-144208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:144206000-144210200	Enhancers	Fetal Stomach	stomach
3	chr4:144206200-144209000	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr4:144206600-144207800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:144206600-144208800	Enhancers	Fetal Lung	lung
6	chr4:144206800-144207800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:144206800-144207800	Enhancers	NHDF-Ad	bronchial
8	chr4:144206800-144208000	Enhancers	NHLF	lung
9	chr4:144206800-144208200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:144206800-144209000	Enhancers	Fetal Brain Male	brain
11	chr4:144206800-144209000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:144206800-144209200	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:144207000-144208000	Enhancers	Adipose Nuclei	Adipose
14	chr4:144207000-144208000	Enhancers	NHEK	skin
15	chr4:144207000-144208200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:144207000-144208200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:144207000-144208200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:144207000-144208600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:144207000-144208800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:144207000-144208800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:144207000-144209000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:144207000-144209000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:144207000-144209000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:144207200-144208200	Enhancers	Colon Smooth Muscle	Colon
25	chr4:144207200-144208200	Enhancers	HMEC	breast
26	chr4:144207200-144208400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:144207200-144208600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:144207200-144208600	Enhancers	Aorta	Aorta
29	chr4:144207200-144209000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:144207200-144209000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:144207200-144209000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:144207200-144209000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:144207200-144209000	Enhancers	Fetal Muscle Leg	muscle
34	chr4:144207400-144207800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:144207400-144207800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr4:144207400-144208000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:144207400-144208000	Enhancers	NH-A	brain
38	chr4:144207400-144208200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:144207400-144208200	Flanking Active TSS	Osteobl	bone
40	chr4:144207400-144208600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:144207400-144208800	Enhancers	HSMM	muscle
42	chr4:144207400-144209000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:144207400-144209000	Enhancers	Esophagus	oesophagus
44	chr4:144207600-144208400	Active TSS	Ovary	ovary
45	chr4:144207600-144208800	Weak transcription	Psoas Muscle	Psoas
46	chr4:144207600-144209000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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