Variant report

Variant	rs469993
Chromosome Location	chr22:29400319-29400320
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16987063	0.84[YRI][hapmap];0.89[AMR][1000 genomes]
rs55693021	0.89[AMR][1000 genomes]
rs56061941	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73882427	0.81[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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
3	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:29381200-29400400	Weak transcription	Lung	lung
5	chr22:29383600-29400400	Weak transcription	Aorta	Aorta
6	chr22:29385600-29400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:29385600-29401000	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:29388600-29400400	Weak transcription	Placenta	Placenta
9	chr22:29388800-29400800	Weak transcription	Gastric	stomach
10	chr22:29396000-29401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:29396200-29400800	Weak transcription	Adipose Nuclei	Adipose
12	chr22:29396200-29401000	Weak transcription	HSMM	muscle
13	chr22:29396800-29400400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:29396800-29400400	Weak transcription	Ovary	ovary
15	chr22:29396800-29400800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:29397000-29401000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:29397600-29400600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr22:29397800-29402200	Enhancers	Fetal Heart	heart
19	chr22:29398000-29400400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:29398000-29401200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:29398000-29402000	Enhancers	Fetal Muscle Leg	muscle
22	chr22:29398600-29402600	Enhancers	Pancreas	Pancrea
23	chr22:29398800-29400400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr22:29398800-29405000	Weak transcription	HSMMtube	muscle
25	chr22:29399000-29400400	Weak transcription	Psoas Muscle	Psoas
26	chr22:29399400-29400400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr22:29399400-29402000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:29399400-29403200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:29399600-29400800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr22:29399600-29401200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:29399600-29401400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:29399600-29401800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:29399600-29401800	Enhancers	Brain Cingulate Gyrus	brain
34	chr22:29399600-29403400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr22:29399800-29400400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:29399800-29400400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:29399800-29400600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr22:29399800-29400600	Enhancers	NHEK	skin
39	chr22:29399800-29400800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr22:29399800-29401400	Enhancers	Fetal Muscle Trunk	muscle
41	chr22:29399800-29401400	Enhancers	HMEC	breast
42	chr22:29400000-29400600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:29400000-29400600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:29400000-29400600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr22:29400000-29400600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr22:29400000-29400600	Enhancers	Brain Substantia Nigra	brain
47	chr22:29400000-29400600	Enhancers	Stomach Smooth Muscle	stomach
48	chr22:29400000-29400600	Enhancers	A549	lung
49	chr22:29400000-29400800	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:29400000-29400800	Enhancers	Fetal Intestine Large	intestine

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