Variant report

Variant	rs5997447
Chromosome Location	chr22:29529148-29529149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12628033	0.85[ASN][1000 genomes]
rs12628352	0.85[ASN][1000 genomes]
rs132292	0.85[ASN][1000 genomes]
rs132296	0.85[ASN][1000 genomes]
rs132300	0.84[ASN][1000 genomes]
rs2301445	0.87[ASN][1000 genomes]
rs2301446	0.87[ASN][1000 genomes]
rs2347996	0.87[ASN][1000 genomes]
rs469983	0.85[ASN][1000 genomes]
rs4823018	0.85[ASN][1000 genomes]
rs5752871	0.84[ASN][1000 genomes]
rs5763006	0.85[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	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
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:29510000-29530800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:29510000-29531000	Weak transcription	Brain Hippocampus Middle	brain
8	chr22:29510200-29531000	Weak transcription	Brain Substantia Nigra	brain
9	chr22:29512600-29533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:29514400-29532800	Weak transcription	Gastric	stomach
11	chr22:29515000-29533000	Weak transcription	Colon Smooth Muscle	Colon
12	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
13	chr22:29516600-29531000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29516800-29530800	Weak transcription	Aorta	Aorta
15	chr22:29517200-29546200	Strong transcription	Dnd41	blood
16	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29519400-29533800	Weak transcription	Fetal Brain Female	brain
18	chr22:29520600-29534200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:29521400-29530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:29521400-29533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:29522000-29533400	Weak transcription	Colonic Mucosa	Colon
22	chr22:29522400-29541600	Weak transcription	HMEC	breast
23	chr22:29522600-29530800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr22:29522600-29531000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:29522600-29531000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr22:29522600-29532600	Weak transcription	Fetal Brain Male	brain
27	chr22:29522600-29532800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr22:29522600-29532800	Weak transcription	Pancreas	Pancrea
29	chr22:29522600-29533200	Weak transcription	Right Ventricle	heart
30	chr22:29522600-29533800	Weak transcription	Adipose Nuclei	Adipose
31	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:29522800-29531400	Weak transcription	Brain Angular Gyrus	brain
33	chr22:29523000-29533400	Weak transcription	NHEK	skin
34	chr22:29523000-29534600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:29523400-29529800	Weak transcription	HepG2	liver
36	chr22:29523400-29530800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr22:29523400-29532800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
39	chr22:29523800-29530600	Weak transcription	Placenta	Placenta
40	chr22:29524400-29533800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:29525400-29536000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:29525800-29530800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:29525800-29530800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:29525800-29532600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:29525800-29535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr22:29525800-29544400	Weak transcription	NHLF	lung
47	chr22:29526000-29529400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr22:29526000-29529800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:29526000-29531000	Weak transcription	Lung	lung
50	chr22:29526000-29533000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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