Variant report

Variant	rs60312543
Chromosome Location	chr4:89764451-89764452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:89763902..89766661-chr4:89768609..89770489,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72872111	0.86[AFR][1000 genomes]
rs72872139	0.86[AFR][1000 genomes]
rs72872161	0.86[AFR][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89745000-89764800	Weak transcription	Pancreas	Pancrea
2	chr4:89745000-89770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:89745000-89775000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:89745200-89776200	Weak transcription	Aorta	Aorta
5	chr4:89749000-89769600	Weak transcription	K562	blood
6	chr4:89752000-89778800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:89752800-89769200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:89754600-89779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:89756400-89767400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:89756600-89764800	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:89761600-89767400	Weak transcription	HepG2	liver
12	chr4:89762800-89765000	Enhancers	Osteobl	bone
13	chr4:89763000-89764800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:89763000-89765000	Enhancers	NHDF-Ad	bronchial
15	chr4:89763000-89767400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:89763200-89765200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:89763200-89765400	Enhancers	Fetal Lung	lung
18	chr4:89763400-89765200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:89763400-89765400	Enhancers	Stomach Mucosa	stomach
20	chr4:89763400-89766000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr4:89763600-89765200	Enhancers	Small Intestine	intestine
22	chr4:89763600-89766200	Enhancers	Fetal Intestine Small	intestine
23	chr4:89764000-89765200	Enhancers	HUVEC	blood vessel
24	chr4:89764200-89764800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:89764200-89765000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:89764200-89765000	Enhancers	Ovary	ovary
27	chr4:89764200-89765400	Enhancers	Fetal Intestine Large	intestine
28	chr4:89764400-89764800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:89764400-89764800	Enhancers	Right Atrium	heart
30	chr4:89764400-89765000	Active TSS	Duodenum Mucosa	Duodenum
31	chr4:89764400-89765000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr4:89764400-89765000	Enhancers	Left Ventricle	heart
33	chr4:89764400-89765000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:89764400-89765200	Enhancers	Adipose Nuclei	Adipose
35	chr4:89764400-89765200	Enhancers	Fetal Heart	heart
36	chr4:89764400-89765200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:89764400-89765400	Strong transcription	Placenta	Placenta
38	chr4:89764400-89765800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:89764400-89766000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:89764400-89767600	Weak transcription	NHLF	lung
41	chr4:89764400-89779400	Weak transcription	Primary hematopoietic stem cells	blood

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