Variant report

Variant	rs713649
Chromosome Location	chr22:28536105-28536106
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10212007	0.84[ASN][1000 genomes]
rs62237575	0.89[ASN][1000 genomes]
rs695289	0.83[ASN][1000 genomes]
rs695305	0.83[ASN][1000 genomes]
rs695344	0.83[ASN][1000 genomes]
rs695555	0.83[ASN][1000 genomes]
rs695580	0.83[ASN][1000 genomes]
rs695626	0.83[ASN][1000 genomes]
rs695627	0.83[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28513200-28538000	Weak transcription	Dnd41	blood
2	chr22:28533000-28537800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
5	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
6	chr22:28534400-28537400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:28534400-28544000	Enhancers	Fetal Brain Male	brain
8	chr22:28534600-28536400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr22:28534600-28537400	Enhancers	Fetal Muscle Leg	muscle
10	chr22:28534600-28537800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:28534600-28538000	Enhancers	NHLF	lung
12	chr22:28534600-28541000	Enhancers	Fetal Stomach	stomach
13	chr22:28534800-28536200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr22:28534800-28536400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr22:28535000-28536400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr22:28535000-28537400	Enhancers	NHDF-Ad	bronchial
17	chr22:28535000-28538000	Enhancers	HSMMtube	muscle
18	chr22:28535000-28538200	Enhancers	Adipose Nuclei	Adipose
19	chr22:28535200-28536800	Enhancers	Fetal Kidney	kidney
20	chr22:28535200-28537400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:28535200-28537600	Enhancers	Osteobl	bone
22	chr22:28535400-28536600	Enhancers	HUVEC	blood vessel
23	chr22:28535400-28536800	Weak transcription	Fetal Brain Female	brain
24	chr22:28535400-28537400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:28535400-28537600	Weak transcription	Brain Angular Gyrus	brain
26	chr22:28535400-28537800	Enhancers	NH-A	brain
27	chr22:28535400-28539400	Enhancers	HMEC	breast
28	chr22:28535400-28541200	Enhancers	Colon Smooth Muscle	Colon
29	chr22:28535600-28536200	Enhancers	Stomach Mucosa	stomach
30	chr22:28535600-28537800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr22:28535600-28538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr22:28535600-28538000	Enhancers	HSMM	muscle
33	chr22:28535600-28539200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:28535600-28540400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr22:28535800-28536200	Enhancers	Left Ventricle	heart
36	chr22:28535800-28536600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:28535800-28537000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:28535800-28537200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:28535800-28537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:28535800-28537400	Enhancers	Right Ventricle	heart
41	chr22:28535800-28537600	Enhancers	Ovary	ovary
42	chr22:28535800-28537800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:28535800-28539000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:28535800-28539000	Enhancers	NHEK	skin
45	chr22:28535800-28540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:28535800-28540400	Enhancers	Fetal Heart	heart
47	chr22:28535800-28540800	Enhancers	Rectal Smooth Muscle	rectum
48	chr22:28536000-28536200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr22:28536000-28536200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:28536000-28536200	Enhancers	HUES6 Cell Line	embryonic stem cell

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