Variant report

Variant	rs58212965
Chromosome Location	chr4:22515674-22515675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56281913	0.88[EUR][1000 genomes]
rs60908827	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816964	0.90[ASN][1000 genomes]
rs6822459	0.90[ASN][1000 genomes]
rs73802854	0.88[EUR][1000 genomes]
rs73802855	0.88[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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:22506600-22515800	Weak transcription	Aorta	Aorta
3	chr4:22507600-22516200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:22508000-22516200	Weak transcription	Small Intestine	intestine
5	chr4:22508400-22516000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:22508600-22515800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:22509800-22515800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:22510400-22516000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:22510400-22516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:22510600-22515800	Weak transcription	Adipose Nuclei	Adipose
11	chr4:22510800-22515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:22512000-22516600	Weak transcription	Esophagus	oesophagus
13	chr4:22512200-22516000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:22512400-22516000	Weak transcription	Colonic Mucosa	Colon
15	chr4:22512400-22516000	Weak transcription	Right Atrium	heart
16	chr4:22512400-22516000	Weak transcription	Right Ventricle	heart
17	chr4:22512400-22516200	Weak transcription	Left Ventricle	heart
18	chr4:22514000-22515800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:22514200-22516000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:22514600-22516000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:22514600-22516000	Enhancers	Fetal Intestine Small	intestine
22	chr4:22514600-22516400	Weak transcription	Lung	lung
23	chr4:22514800-22515800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:22514800-22515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:22514800-22515800	Weak transcription	Psoas Muscle	Psoas
26	chr4:22514800-22516000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:22515000-22516000	Weak transcription	Ovary	ovary
28	chr4:22515200-22515800	Enhancers	Colon Smooth Muscle	Colon
29	chr4:22515200-22515800	Enhancers	HSMM	muscle
30	chr4:22515200-22516000	Enhancers	Fetal Lung	lung
31	chr4:22515200-22516200	Weak transcription	Thymus	Thymus
32	chr4:22515200-22518000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:22515200-22518200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:22515400-22515800	Enhancers	Fetal Brain Female	brain
35	chr4:22515400-22515800	Flanking Active TSS	HMEC	breast
36	chr4:22515400-22516200	Weak transcription	Pancreas	Pancrea
37	chr4:22515400-22516200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:22515400-22516400	Weak transcription	Gastric	stomach
39	chr4:22515400-22516600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:22515400-22518000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr4:22515400-22518200	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr4:22515600-22515800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr4:22515600-22515800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:22515600-22515800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:22515600-22515800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:22515600-22515800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:22515600-22515800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr4:22515600-22515800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:22515600-22515800	Enhancers	Brain Angular Gyrus	brain
50	chr4:22515600-22515800	Enhancers	Fetal Intestine Large	intestine

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