Variant report

Variant	rs5997442
Chromosome Location	chr22:29521045-29521046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6006002	0.81[AFR][1000 genomes]
rs6006033	0.89[AFR][1000 genomes]
rs6006045	0.89[AFR][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	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:69 , 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	chr22:29488400-29521200	Weak transcription	Lung	lung
3	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
4	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
5	chr22:29491600-29522200	Weak transcription	Liver	Liver
6	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
7	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:29504800-29521800	Weak transcription	NHEK	skin
9	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr22:29506400-29522200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:29506400-29522400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:29509400-29524400	Weak transcription	NHDF-Ad	bronchial
14	chr22:29509400-29525000	Weak transcription	Osteobl	bone
15	chr22:29510000-29525400	Weak transcription	Brain Anterior Caudate	brain
16	chr22:29510000-29528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:29510000-29530800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:29510000-29531000	Weak transcription	Brain Hippocampus Middle	brain
19	chr22:29510200-29531000	Weak transcription	Brain Substantia Nigra	brain
20	chr22:29512400-29522200	Weak transcription	Small Intestine	intestine
21	chr22:29512600-29533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:29514200-29521200	Weak transcription	Left Ventricle	heart
23	chr22:29514200-29521400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr22:29514200-29522200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr22:29514400-29532800	Weak transcription	Gastric	stomach
26	chr22:29514600-29521800	Weak transcription	Placenta	Placenta
27	chr22:29514600-29522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:29514800-29521600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:29515000-29533000	Weak transcription	Colon Smooth Muscle	Colon
30	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
31	chr22:29516600-29521800	Weak transcription	Brain Angular Gyrus	brain
32	chr22:29516600-29522000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr22:29516600-29531000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:29516800-29521200	Weak transcription	Fetal Intestine Large	intestine
35	chr22:29516800-29522200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr22:29516800-29522400	Weak transcription	Adipose Nuclei	Adipose
37	chr22:29516800-29522400	Weak transcription	Fetal Kidney	kidney
38	chr22:29516800-29523000	Strong transcription	Fetal Lung	lung
39	chr22:29516800-29530800	Weak transcription	Aorta	Aorta
40	chr22:29517000-29521200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:29517200-29546200	Strong transcription	Dnd41	blood
42	chr22:29517600-29522200	Weak transcription	HepG2	liver
43	chr22:29517800-29521200	Weak transcription	Ovary	ovary
44	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:29519000-29522400	Enhancers	Fetal Brain Male	brain
46	chr22:29519400-29522200	Strong transcription	Fetal Intestine Small	intestine
47	chr22:29519400-29523200	Strong transcription	Fetal Muscle Leg	muscle
48	chr22:29519400-29528200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:29519400-29533800	Weak transcription	Fetal Brain Female	brain
50	chr22:29519800-29523000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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